Background

Condition Lookup

Speciality:

Hematology

Number of Conditions: 127

Disseminated Intravascular Coagulation (DIC)

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
bleeding from multiple sites (e.g., gums, nose, surgical sites); bruising; blood clots; shortness of breath; chest pain; confusion or altered mental status; petechiae or purpura (small red or purple spots); organ dysfunction

Root Cause:
Abnormal activation of the coagulation cascade leads to widespread clot formation and consumption of clotting factors, resulting in bleeding and thrombosis.

How it's Diagnosed: videos
Diagnosed through blood tests including elevated D-dimer, prolonged PT and aPTT, decreased platelet count, and low fibrinogen levels.

Treatment:
Addressing the underlying cause, supportive care, and replacement of clotting factors.

Medications:
Anticoagulants

Prevalence: How common the health condition is within a specific population.
Commonly seen in critically ill patients; exact prevalence depends on the underlying condition (e.g., sepsis, trauma).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Sepsis, trauma, malignancy, obstetric complications, and severe infections.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying cause; untreated DIC can lead to multi-organ failure and death.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Organ failure, severe hemorrhage, and death.

Neutropenic Fever

Specialty: Hematology

Category: Blood Disorders

Symptoms:
fever; chills; signs of infection despite low inflammatory response

Root Cause:
Fever in a patient with neutropenia, usually indicative of an infection despite minimal immune response.

How it's Diagnosed: videos
Clinical evaluation, blood cultures, imaging (e.g., chest X-ray), and ruling out other causes of fever.

Treatment:
Broad-spectrum antibiotics, antifungals, or antivirals; adjustments based on culture results.

Medications:
Broad-spectrum antibiotics (e.g., piperacillin-tazobactam, cefepime ), antifungals (e.g., voriconazole for suspected fungal infections), antivirals (e.g., acyclovir if viral etiology suspected).

Prevalence: How common the health condition is within a specific population.
Common in chemotherapy patients; up to 50% of patients with neutropenia develop fever.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chemotherapy, hematologic malignancies, bone marrow transplantation.

Prognosis: The expected outcome or course of the condition over time.
Good with prompt treatment; delayed treatment can lead to severe sepsis and death.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Sepsis, organ failure, prolonged hospitalization.

Hypereosinophilic Syndrome (HES)

Specialty: Hematology

Category: Immune System and Disorders

Symptoms:
fatigue; weight loss; skin rash; itching; cough; shortness of breath; cardiac symptoms like chest pain or heart failure

Root Cause:
Persistent overproduction of eosinophils leading to tissue damage in organs such as the heart, lungs, skin, and gastrointestinal tract.

How it's Diagnosed: videos
Persistent eosinophilia (greater than or equal to 1500/micro L for at least 6 months), clinical evaluation for organ damage, and exclusion of secondary causes like infections or malignancies.

Treatment:
Corticosteroids, immunosuppressive agents, and biologics targeting eosinophils (e.g., mepolizumab).

Medications:
Corticosteroids (e.g., prednisone for inflammation), tyrosine kinase inhibitors like imatinib (for specific molecular subtypes), and biologics like mepolizumab (anti-IL-5 monoclonal antibody).

Prevalence: How common the health condition is within a specific population.
Rare; incidence is approximately 0.36–0.9 cases per 100,000 per year.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, male sex, and certain molecular mutations (e.g., PDGFRA rearrangements).

Prognosis: The expected outcome or course of the condition over time.
Highly variable; manageable with treatment but may be life-threatening without intervention.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Cardiac complications (e.g., endomyocardial fibrosis), thromboembolism, and organ failure.

Renal Vein Thrombosis

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
flank pain; hematuria (blood in urine); proteinuria; enlarged kidney on imaging; nausea or vomiting; reduced urine output

Root Cause:
The formation of a blood clot in the renal vein, which obstructs blood outflow from the kidney, often associated with nephrotic syndrome, dehydration, or hypercoagulable states.

How it's Diagnosed: videos
Imaging studies such as Doppler ultrasound, CT angiography, or MR angiography, along with laboratory tests to assess renal function and coagulation status.

Treatment:
Anticoagulation therapy (e.g., LMWH or DOACs), treatment of underlying conditions like nephrotic syndrome, and, in severe cases, thrombectomy or thrombolysis.

Medications:
Anticoagulants such as LMWH, warfarin , or DOACs (e.g., rivaroxaban , apixaban ). These are classified as anticoagulants.

Prevalence: How common the health condition is within a specific population.
Rare, with higher incidence in individuals with nephrotic syndrome, severe dehydration, or hypercoagulable conditions.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Nephrotic syndrome, dehydration, malignancy, trauma, oral contraceptive use, and inherited thrombophilias.

Prognosis: The expected outcome or course of the condition over time.
Favorable with timely diagnosis and treatment; chronic renal damage or loss of kidney function can occur in delayed or untreated cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Kidney damage or failure, pulmonary embolism, chronic kidney disease, and recurrent thrombosis.

Thrombotic Thrombocytopenic Purpura (TTP)

Specialty: Hematology

Category: Thrombotic Microangiopathies

Symptoms:
fever; confusion or neurological symptoms; microangiopathic hemolytic anemia; thrombocytopenia; renal impairment; purpura or bruising

Root Cause:
Deficiency or inhibition of ADAMTS13 enzyme leading to abnormal clotting and red blood cell destruction in small blood vessels.

How it's Diagnosed: videos
Blood tests (CBC, peripheral smear showing schistocytes, LDH, haptoglobin), ADAMTS13 activity assay, and ruling out other causes.

Treatment:
Plasma exchange (plasmapheresis), corticosteroids, rituximab (for refractory cases).

Medications:
Corticosteroids (immunosuppressive), rituximab (monoclonal antibody), caplacizumab (anti-vWF monoclonal antibody).

Prevalence: How common the health condition is within a specific population.
Rare, approximately 2-6 cases per million annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune disorders, HIV, certain medications, pregnancy.

Prognosis: The expected outcome or course of the condition over time.
Potentially life-threatening without treatment; survival improves significantly with plasma exchange.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, organ damage, recurrence.

Acute Lymphoblastic Leukemia (ALL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; fever; frequent infections; unexplained bruising or bleeding; shortness of breath; bone or joint pain; swollen lymph nodes; pale skin; unintended weight loss

Root Cause:
Rapid proliferation of immature lymphoblasts in the bone marrow, crowding out normal blood cells.

How it's Diagnosed: videos
Blood tests (CBC showing high white blood cell counts, low red blood cells and platelets), bone marrow biopsy, flow cytometry, cytogenetic analysis, and imaging studies.

Treatment:
Chemotherapy, targeted therapy, stem cell transplantation, and supportive care (e.g., blood transfusions, antibiotics).

Medications:
Medications commonly prescribed include vincristine (vinca alkaloid), dexamethasone (corticosteroid), asparaginase (enzyme), and imatinib (tyrosine kinase inhibitor, if Philadelphia chromosome-positive ALL).

Prevalence: How common the health condition is within a specific population.
Most common childhood cancer, with approximately 3,000–5,000 cases annually in the United States; less common in adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic syndromes (e.g., Down syndrome), family history of leukemia, previous chemotherapy or radiation, and exposure to high doses of radiation.

Prognosis: The expected outcome or course of the condition over time.
High cure rates in children (5-year survival over 90%), lower in adults (35–50% 5-year survival); depends on age, subtype, and treatment response.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Infection, relapse, long-term side effects of chemotherapy (e.g., cardiotoxicity, neurotoxicity), and secondary malignancies.

Acute Myeloid Leukemia (AML)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; pale skin; shortness of breath; frequent infections; easy bruising or bleeding; bone or joint pain; swollen gums; unintended weight loss

Root Cause:
Uncontrolled proliferation of immature myeloid cells in the bone marrow, impairing normal blood cell production.

How it's Diagnosed: videos
Blood tests (CBC showing anemia, thrombocytopenia, and high/low WBC counts), bone marrow biopsy, cytogenetic and molecular testing, flow cytometry.

Treatment:
Intensive chemotherapy, targeted therapies, stem cell transplantation, and supportive care (e.g., transfusions, growth factors).

Medications:
Medications include cytarabine (antimetabolite), daunorubicin (anthracycline), and targeted agents like midostaurin (FLT3 inhibitor) or venetoclax (BCL-2 inhibitor).

Prevalence: How common the health condition is within a specific population.
Accounts for about 1% of adult cancers; incidence increases with age (median age at diagnosis ~68 years).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, prior chemotherapy/radiation, smoking, benzene exposure, and certain genetic disorders (e.g., Fanconi anemia).

Prognosis: The expected outcome or course of the condition over time.
Poorer in older adults; overall 5-year survival ~29%; better outcomes with favorable cytogenetics.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Relapse, infection, bleeding, organ damage, and treatment-related secondary cancers.

Chronic Lymphocytic Leukemia (CLL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
swollen lymph nodes; fatigue; frequent infections; fever; night sweats; unexplained weight loss; easy bruising or bleeding

Root Cause:
Accumulation of abnormal, mature-appearing but dysfunctional B-lymphocytes in the blood, bone marrow, and lymphoid tissues.

How it's Diagnosed: videos
Complete blood count (CBC), flow cytometry, bone marrow biopsy, genetic testing (FISH), and imaging studies.

Treatment:
Targeted therapy, chemotherapy, immunotherapy, and stem cell transplantation in advanced cases.

Medications:
Ibrutinib (BTK inhibitor)

Prevalence: How common the health condition is within a specific population.
Most common leukemia in adults in Western countries, typically diagnosed in individuals over 60 years old.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male gender, family history, exposure to certain chemicals (e.g., Agent Orange).

Prognosis: The expected outcome or course of the condition over time.
Variable; many cases are slow-progressing and managed without treatment for years. Advanced cases may require aggressive therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Infections, anemia, transformation to aggressive lymphoma (Richter's syndrome), and immune system dysfunction.

Hairy Cell Leukemia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; frequent infections; easy bruising or bleeding; enlarged spleen (splenomegaly); feeling of fullness in the abdomen; anemia; low white blood cell count (neutropenia); low platelet count (thrombocytopenia)

Root Cause:
A rare type of blood cancer where abnormal B lymphocytes (white blood cells) accumulate in the bone marrow, spleen, and blood, leading to compromised immune function and bone marrow failure.

How it's Diagnosed: videos
Blood tests (CBC with differential, peripheral blood smear), flow cytometry, bone marrow biopsy, and immunophenotyping (CD103, CD25 markers).

Treatment:
Chemotherapy (purine analogs like cladribine), targeted therapy, and in some cases, immunotherapy or splenectomy.

Medications:
Cladribine and pentostatin (purine analogs); rituximab (anti-CD20 monoclonal antibody); vemurafenib (BRAF inhibitor for BRAF-mutated cases). These medications fall into categories such as chemotherapy agents, monoclonal antibodies, and targeted inhibitors.

Prevalence: How common the health condition is within a specific population.
Affects approximately 6,000–7,000 people in the U.S., with an incidence of 0.3 cases per 100,000 annually; more common in middle-aged and older men.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Male gender, age 40–60, exposure to certain chemicals (e.g., pesticides), and genetic mutations like BRAF V600E.

Prognosis: The expected outcome or course of the condition over time.
Excellent with appropriate treatment, with long-term remission in most cases after therapy; relapses can occur but are usually manageable.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Persistent neutropenia, recurrent infections, secondary cancers, splenic rupture, and autoimmune phenomena.

Hodgkin Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
painless swelling of lymph nodes in the neck, armpits, or groin; fever; night sweats; unexplained weight loss; fatigue; itchy skin; persistent cough or chest pain if mediastinal nodes are involved

Root Cause:
Malignant proliferation of Reed-Sternberg cells (abnormal B lymphocytes) in lymphatic tissue.

How it's Diagnosed: videos
Lymph node biopsy (showing Reed-Sternberg cells), imaging (CT, PET scan), and blood tests (CBC, ESR).

Treatment:
Chemotherapy, radiation therapy, targeted therapy, and in some cases, autologous stem cell transplantation.

Medications:
ABVD regimen (Adriamycin /doxorubicin , Bleomycin , Vinblastine , Dacarbazine ); brentuximab vedotin (anti-CD30 monoclonal antibody); nivolumab or pembrolizumab (immune checkpoint inhibitors). These include chemotherapy drugs, monoclonal antibodies, and immunotherapy agents.

Prevalence: How common the health condition is within a specific population.
Approximately 8,500 cases diagnosed annually in the U.S.; most common in individuals aged 15–40 or over 55.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Epstein-Barr virus infection, family history, weakened immune system, and HIV infection.

Prognosis: The expected outcome or course of the condition over time.
Highly treatable; five-year survival rate exceeds 85% with modern therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Secondary malignancies, infertility, cardiotoxicity, and lung damage from treatment.

Cutaneous T-Cell Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
red, scaly skin patches; plaque-like skin lesions; itchiness; skin thickening; enlarged lymph nodes; ulcerated tumors

Root Cause:
Malignant proliferation of T-cells primarily affecting the skin.

How it's Diagnosed: videos
Skin biopsy, blood tests (Sézary cells in advanced stages), imaging studies, and flow cytometry.

Treatment:
Phototherapy, topical corticosteroids, systemic therapy (chemotherapy, targeted drugs), and extracorporeal photopheresis.

Medications:
Bexarotene (retinoid)

Prevalence: How common the health condition is within a specific population.
Rare, accounting for less than 5% of all non-Hodgkin lymphomas.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male gender, and genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Variable; early stages are manageable, but advanced stages can be challenging to treat.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Secondary infections, disfigurement, progression to systemic disease, and treatment-related toxicities.

Acquired Hemophilia

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
spontaneous bleeding; severe bruising; prolonged bleeding after injury or surgery; muscle or joint pain due to bleeding; internal organ bleeding; hematuria (blood in urine); gastrointestinal bleeding

Root Cause:
Autoimmune production of inhibitors (antibodies) against factor VIII, impairing normal blood clotting.

How it's Diagnosed: videos
Diagnosed through blood tests such as prolonged activated partial thromboplastin time (aPTT), mixing studies (to differentiate inhibitors from clotting factor deficiencies), and specific inhibitor assays to confirm factor VIII inhibitor presence.

Treatment:
Treatment involves controlling bleeding episodes, suppressing the immune system to reduce inhibitor levels, and replacing clotting factor VIII.

Medications:
Bypassing agents

Prevalence: How common the health condition is within a specific population.
Rare, with an incidence of 1.5 cases per million people annually; more common in the elderly or postpartum women.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases, malignancies, postpartum state, certain medications, and no apparent cause (idiopathic).

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on timely diagnosis and treatment; bleeding episodes can be life-threatening, but remission is possible with appropriate therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening hemorrhage, severe anemia, organ damage from bleeding, and complications from immunosuppressive therapy (e.g., infections).

Alpha2-Plasmin Inhibitor Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
excessive bleeding after injury or surgery; spontaneous bleeding; menorrhagia in women; hemorrhage into joints and muscles; easy bruising

Root Cause:
A deficiency in alpha2-plasmin inhibitor (a protein that regulates fibrinolysis), leading to uncontrolled breakdown of blood clots.

How it's Diagnosed: videos
Diagnosed through prolonged clot lysis time, low levels of alpha2-plasmin inhibitor in blood, and genetic testing.

Treatment:
Management includes antifibrinolytic agents to prevent excessive clot breakdown and supportive care during bleeding episodes.

Medications:
Antifibrinolytics

Prevalence: How common the health condition is within a specific population.
Extremely rare; exact prevalence is unknown, but it is a rare inherited disorder.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations in the SERPINF2 gene (inherited in an autosomal recessive manner).

Prognosis: The expected outcome or course of the condition over time.
Lifelong management is required; patients can live a normal life with appropriate treatment, but severe bleeding episodes may be life-threatening.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening hemorrhages, chronic joint damage due to recurrent bleeding, and potential over-treatment leading to thrombosis.

Antithrombin Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
recurrent venous thromboembolism (vte); deep vein thrombosis (dvt); pulmonary embolism (pe); swelling and pain in affected limbs; rarely asymptomatic until an event occurs

Root Cause:
Low levels or reduced function of antithrombin, a natural anticoagulant, leading to increased risk of blood clots.

How it's Diagnosed: videos
Diagnosed through blood tests measuring antithrombin activity and antigen levels. Genetic testing may confirm hereditary cases.

Treatment:
Preventative anticoagulation therapy and antithrombin concentrates during high-risk situations like surgery or childbirth.

Medications:
Anticoagulants

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 2,000–5,000 people; hereditary antithrombin deficiency is rare.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, surgery, prolonged immobility, pregnancy, oral contraceptives, and malignancies.

Prognosis: The expected outcome or course of the condition over time.
With anticoagulation therapy, most thrombotic events can be prevented or managed. Lifelong anticoagulation may be needed for some patients.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Recurring thrombotic events, post-thrombotic syndrome, and bleeding complications from anticoagulant therapy.

Arsine Poisoning

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
dark red urine (hemoglobinuria); jaundice; fatigue; shortness of breath; nausea and vomiting; abdominal pain; weakness

Root Cause:
Hemolysis (destruction of red blood cells) caused by exposure to arsine gas, a highly toxic compound.

How it's Diagnosed: videos
Diagnosed through history of exposure, symptoms, and laboratory findings of hemolysis (elevated lactate dehydrogenase, low haptoglobin, and hemoglobinuria).

Treatment:
Remove the patient from exposure, supportive care, and blood transfusions for severe hemolysis.

Medications:
Chelating agents

Prevalence: How common the health condition is within a specific population.
Extremely rare; typically occurs in industrial settings with accidental exposure to arsine gas.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Working in industries handling arsenic compounds, such as semiconductor manufacturing or metallurgical processes.

Prognosis: The expected outcome or course of the condition over time.
Recovery is possible with prompt treatment, but severe cases may lead to kidney failure or death.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Acute kidney injury, severe anemia, multi-organ failure, and death if untreated.

Dysfibrinogenemia

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
mild to severe bleeding; recurrent miscarriages; excessive bruising; thrombosis in some cases; delayed wound healing

Root Cause:
Mutations in the fibrinogen gene leading to abnormal fibrinogen structure or function, impairing clot formation or promoting thrombosis.

How it's Diagnosed: videos
Diagnosed through abnormal clotting tests (prolonged PT, aPTT, and thrombin time), low functional fibrinogen, and genetic testing.

Treatment:
Management depends on symptoms, with replacement therapy for bleeding and anticoagulation for thrombosis.

Medications:
Fibrinogen concentrate

Prevalence: How common the health condition is within a specific population.
Very rare; typically hereditary with an autosomal dominant inheritance.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of dysfibrinogenemia or related mutations.

Prognosis: The expected outcome or course of the condition over time.
Highly variable; mild cases are asymptomatic, while severe cases may involve life-threatening bleeding or thrombosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening hemorrhage or recurrent thrombotic events.

Esophageal Hematoma

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
chest pain; difficulty swallowing (dysphagia); vomiting blood (hematemesis); black or tarry stools (melena); upper abdominal pain

Root Cause:
Hemorrhage within the esophageal wall, often due to trauma, anticoagulation therapy, or underlying coagulopathy.

How it's Diagnosed: videos
Diagnosed via endoscopy, CT scan, or MRI revealing hematoma in the esophageal wall.

Treatment:
Supportive care, stopping anticoagulants, and occasionally endoscopic intervention or surgery.

Medications:
Reversal agents

Prevalence: How common the health condition is within a specific population.
Rare; occurs more often in patients on anticoagulation therapy or with trauma to the esophagus.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Anticoagulant use, trauma, esophageal varices, or coagulopathies.

Prognosis: The expected outcome or course of the condition over time.
Generally favorable with prompt treatment; complications may arise if diagnosis or management is delayed.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding, esophageal rupture, or mediastinitis.

Factor II Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injury or surgery; easy bruising; nosebleeds (epistaxis); gastrointestinal bleeding; menorrhagia in women; joint or muscle bleeding in severe cases

Root Cause:
Deficiency of prothrombin (factor II), a crucial protein in the coagulation cascade, leading to impaired blood clot formation.

How it's Diagnosed: videos
Diagnosed through prolonged PT and aPTT, low factor II activity on specific coagulation assays, and genetic testing for inherited forms.

Treatment:
Replacement therapy with prothrombin complex concentrates or fresh frozen plasma during bleeding episodes.

Medications:
Prothrombin complex concentrates (PCC)

Prevalence: How common the health condition is within a specific population.
Extremely rare; estimated at 1 in 2 million for inherited forms.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited mutations in the F2 gene or acquired vitamin K deficiency due to malabsorption, liver disease, or anticoagulants.

Prognosis: The expected outcome or course of the condition over time.
Generally good with appropriate treatment; severe cases may require lifelong management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding episodes, chronic joint damage from hemarthrosis, and complications from treatment (e.g., thromboembolism).

Factor V Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
nosebleeds (epistaxis); easy bruising; prolonged bleeding after injury or surgery; heavy menstrual bleeding; spontaneous bleeding in severe cases

Root Cause:
Deficiency of factor V, a protein essential for thrombin generation, causing impaired clot formation.

How it's Diagnosed: videos
Prolonged PT and aPTT, reduced factor V activity on specific assays, and normal fibrinogen levels.

Treatment:
Fresh frozen plasma or platelet transfusions during bleeding episodes.

Medications:
Fresh frozen plasma (FFP)

Prevalence: How common the health condition is within a specific population.
Rare; estimated at 1 in 1 million people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited mutations in the F5 gene or acquired conditions like liver disease.

Prognosis: The expected outcome or course of the condition over time.
Good with appropriate management; spontaneous bleeding is rare in mild to moderate cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding episodes, particularly in surgical or trauma settings.

Factor VII Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injury or surgery; nosebleeds (epistaxis); easy bruising; gastrointestinal bleeding; intracranial hemorrhage in severe cases

Root Cause:
Deficiency of factor VII, a protein essential for initiating blood coagulation via the extrinsic pathway.

How it's Diagnosed: videos
Prolonged PT, normal aPTT, and reduced factor VII activity on specific assays.

Treatment:
Replacement therapy with recombinant activated factor VII or fresh frozen plasma.

Medications:
Recombinant activated factor VII (rFVIIa)

Prevalence: How common the health condition is within a specific population.
Rare; estimated at 1 in 500,000 people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited mutations in the F7 gene or acquired vitamin K deficiency.

Prognosis: The expected outcome or course of the condition over time.
Variable; severe cases require frequent replacement therapy, while mild cases may remain asymptomatic.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding, intracranial hemorrhage, and thromboembolic events from treatment.

Factor X Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
easy bruising; nosebleeds (epistaxis); gastrointestinal bleeding; hemarthrosis (joint bleeding); prolonged bleeding after injury or surgery

Root Cause:
Deficiency of factor X, a protein essential for the activation of thrombin and clot stabilization.

How it's Diagnosed: videos
Prolonged PT and aPTT, reduced factor X activity on specific coagulation assays.

Treatment:
Replacement therapy with prothrombin complex concentrates or fresh frozen plasma during bleeding episodes.

Medications:
Prothrombin complex concentrates (PCC)

Prevalence: How common the health condition is within a specific population.
Rare; estimated at 1 in 1 million people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited mutations in the F10 gene or acquired vitamin K deficiency due to malnutrition or liver disease.

Prognosis: The expected outcome or course of the condition over time.
Good with appropriate treatment; severe cases may require lifelong management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding episodes, particularly in surgical or trauma settings.

Factor XI Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injury or surgery; nosebleeds (epistaxis); easy bruising; menorrhagia in women; bleeding into joints or muscles (rare); spontaneous bleeding (rare)

Root Cause:
Reduced levels or function of factor XI, a clotting protein involved in the intrinsic pathway of coagulation.

How it's Diagnosed: videos
Diagnosed through prolonged aPTT, normal PT, and low factor XI activity levels. Genetic testing may confirm hereditary cases.

Treatment:
Antifibrinolytics for minor bleeding, factor XI replacement for severe cases, and careful perioperative planning.

Medications:
Antifibrinolytics

Prevalence: How common the health condition is within a specific population.
Common in Ashkenazi Jewish populations, affecting 1 in 450; globally, rare with variable prevalence.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited mutations in the F11 gene; typically autosomal recessive but can be heterozygous with milder symptoms.

Prognosis: The expected outcome or course of the condition over time.
Good with proper management; spontaneous bleeding is rare.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding during surgery or trauma; thromboembolic risks with replacement therapy.

Factor XIII Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injury or surgery; umbilical stump bleeding in neonates; intracranial hemorrhage; spontaneous abortion in women; poor wound healing; soft tissue hematomas

Root Cause:
Deficiency of factor XIII, a protein responsible for cross-linking fibrin and stabilizing blood clots.

How it's Diagnosed: videos
Diagnosed through normal PT and aPTT but abnormal clot solubility test; factor XIII activity assay confirms the diagnosis.

Treatment:
Regular prophylactic replacement therapy with factor XIII concentrate and acute management during bleeding episodes.

Medications:
Factor XIII concentrate

Prevalence: How common the health condition is within a specific population.
Extremely rare, affecting 1 in 1–5 million people worldwide.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autosomal recessive inheritance with mutations in F13A1 or F13B genes.

Prognosis: The expected outcome or course of the condition over time.
Lifelong replacement therapy significantly improves outcomes; untreated cases risk life-threatening bleeding.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Intracranial hemorrhage, recurrent pregnancy loss, and delayed wound healing.

Glanzmann Thrombasthenia

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injury or surgery; easy bruising; spontaneous nosebleeds (epistaxis); menorrhagia (heavy menstrual bleeding) in females; gingival bleeding

Root Cause:
A rare genetic disorder caused by mutations in the genes coding for glycoprotein IIb/IIIa complex on platelets, leading to impaired platelet aggregation.

How it's Diagnosed: videos
Diagnosed using platelet function assays, flow cytometry to evaluate glycoprotein IIb/IIIa, genetic testing, and bleeding history.

Treatment:
Management focuses on controlling bleeding episodes and preventing complications. Platelet transfusions are the mainstay treatment during acute bleeding episodes or surgery. Recombinant factor VIIa is used in refractory cases. Hematopoietic stem cell transplantation (HSCT) is curative in severe cases.

Medications:
No daily medication is used for prevention. Recombinant factor VIIa (class

Prevalence: How common the health condition is within a specific population.
Extremely rare; estimated prevalence is 1 in 1 million individuals worldwide. It is more common in populations with higher rates of consanguinity.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic inheritance, with an autosomal recessive pattern; family history of the disorder.

Prognosis: The expected outcome or course of the condition over time.
The prognosis varies depending on the severity of bleeding episodes. With appropriate management, most individuals can lead normal lives, but severe cases may require advanced treatments like HSCT.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe hemorrhages, particularly intracranial or gastrointestinal; anemia due to chronic bleeding; complications from frequent transfusions, such as alloimmunization or iron overload.

Hemolytic-Uremic Syndrome

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
pale or yellowed skin (jaundice); fatigue; irritability; reduced urination; swelling (edema), particularly in the face, hands, or feet; diarrhea (often bloody); high blood pressure; confusion or seizures in severe cases

Root Cause:
HUS is characterized by the triad of hemolytic anemia, thrombocytopenia, and acute kidney injury, commonly triggered by shiga toxin-producing Escherichia coli (STEC) infections or other causes like complement dysregulation (atypical HUS).

How it's Diagnosed: videos
Diagnosis is based on laboratory findings including hemolytic anemia (schistocytes on blood smear), low platelet count, elevated creatinine, and stool culture or PCR to detect STEC. Complement studies are performed for atypical HUS.

Treatment:
Supportive care, including fluid management, electrolyte correction, and blood transfusions as needed. Dialysis may be required for acute kidney injury. For atypical HUS, eculizumab (a monoclonal antibody targeting complement C5) is used.

Medications:
In STEC-HUS, no specific medication targets the infection, but supportive care is critical. In atypical HUS, eculizumab (class

Prevalence: How common the health condition is within a specific population.
STEC-HUS is more common in children under 5 years, with approximately 1-2 cases per 100,000 annually in developed countries. Atypical HUS is extremely rare, with an estimated incidence of 2 cases per 1 million individuals annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Exposure to contaminated food or water (for STEC-HUS), genetic predisposition (for atypical HUS), and certain infections or medications.

Prognosis: The expected outcome or course of the condition over time.
The prognosis for STEC-HUS in children is favorable with appropriate supportive care, though some may develop long-term kidney damage. Atypical HUS has a more variable prognosis, heavily reliant on timely treatment with eculizumab.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, hypertension, seizures, or neurological complications; in atypical HUS, recurrent episodes can lead to significant morbidity.

Hemophilia A (Factor VIII Deficiency)

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injuries or surgeries; spontaneous bleeding into joints (hemarthrosis); muscle hematomas; easy bruising; nosebleeds (epistaxis); blood in urine (hematuria); intracranial hemorrhage in severe cases

Root Cause:
Caused by a deficiency or dysfunction of clotting factor VIII due to mutations in the F8 gene. This results in impaired clot formation and prolonged bleeding.

How it's Diagnosed: videos
Diagnosed through clotting studies (prolonged activated partial thromboplastin time), low factor VIII activity levels, and genetic testing to confirm mutations in the F8 gene.

Treatment:
Treatment involves replacing deficient factor VIII using recombinant factor VIII concentrates or plasma-derived factor VIII. Prophylactic treatment is used to prevent bleeding episodes in severe cases. Emerging gene therapy offers potential long-term solutions.

Medications:
Recombinant factor VIII (class

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 5,000 male births worldwide. Females can be carriers, rarely exhibiting mild symptoms.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of hemophilia A, X-linked inheritance pattern.

Prognosis: The expected outcome or course of the condition over time.
With appropriate treatment, individuals can lead near-normal lives, though severe cases may require lifelong prophylactic therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic joint damage from recurrent hemarthrosis (arthropathy), inhibitors against factor VIII complicating treatment, severe hemorrhages, or infections from blood product transfusions (historically).

Hemophilia B (Factor IX Deficiency)

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding after injuries or surgeries; spontaneous joint bleeds (hemarthrosis); muscle hematomas; easy bruising; nosebleeds (epistaxis); blood in urine (hematuria); intracranial hemorrhage in severe cases

Root Cause:
Caused by a deficiency or dysfunction of clotting factor IX due to mutations in the F9 gene. This results in impaired clot formation and prolonged bleeding.

How it's Diagnosed: videos
Diagnosed through clotting studies (prolonged activated partial thromboplastin time), low factor IX activity levels, and genetic testing to confirm mutations in the F9 gene.

Treatment:
Treatment involves replacing deficient factor IX using recombinant factor IX concentrates or plasma-derived factor IX. Prophylaxis is used to prevent bleeding in severe cases. Gene therapy is an emerging long-term treatment option.

Medications:
Recombinant factor IX (class

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 25,000 male births worldwide. Females can be carriers but rarely exhibit symptoms.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of hemophilia B, X-linked inheritance pattern.

Prognosis: The expected outcome or course of the condition over time.
With appropriate treatment, individuals can lead near-normal lives. Long-acting factor IX products have improved management for severe cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic joint damage from recurrent hemarthrosis (arthropathy), development of inhibitors against factor IX, severe hemorrhages, or infections from blood product transfusions (historically).

Heparin-Induced Thrombocytopenia

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
sudden drop in platelet count after heparin exposure; new or worsening thrombosis (deep vein thrombosis or pulmonary embolism); skin necrosis at the heparin injection site; discoloration or pain in extremities; stroke symptoms in severe cases

Root Cause:
Caused by an immune-mediated reaction where antibodies form against platelet factor 4 (PF4)-heparin complexes, activating platelets and leading to thrombocytopenia and a hypercoagulable state.

How it's Diagnosed: videos
Suspected based on a significant drop in platelets (50% or more) 5–14 days after starting heparin. Confirmed by HIT antibody testing (e.g., ELISA for PF4-heparin antibodies) and functional assays like the serotonin release assay (SRA).

Treatment:
Immediate discontinuation of all heparin products. Transition to a non-heparin anticoagulant such as argatroban or bivalirudin until platelet count recovers. Warfarin is initiated later for long-term anticoagulation, if needed.

Medications:
Direct thrombin inhibitors like argatroban and bivalirudin (class

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 0.1–5% of patients exposed to heparin, with higher rates in patients receiving unfractionated heparin compared to low-molecular-weight heparin.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Use of unfractionated heparin, recent surgery (especially cardiac or orthopedic), prolonged heparin exposure, female sex, and older age.

Prognosis: The expected outcome or course of the condition over time.
With prompt diagnosis and treatment, most patients recover without long-term complications. Delayed diagnosis or untreated HIT can lead to life-threatening thrombosis or organ damage.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening venous or arterial thrombosis (e.g., pulmonary embolism, myocardial infarction, stroke), limb ischemia, organ infarction, and, in severe cases, death.

Hereditary and Acquired Hypercoagulability

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
recurrent deep vein thrombosis (dvt); pulmonary embolism; unexplained stroke or transient ischemic attack; pregnancy complications (e.g., recurrent miscarriages); pain or swelling in limbs due to thrombosis; post-thrombotic syndrome

Root Cause:
Hypercoagulability can result from inherited genetic mutations (e.g., Factor V Leiden, prothrombin gene mutation, protein C or S deficiency) or acquired conditions (e.g., antiphospholipid syndrome, malignancy, prolonged immobility). These lead to an increased tendency to form abnormal blood clots.

How it's Diagnosed: videos
Blood tests for inherited thrombophilia (e.g., genetic testing for Factor V Leiden or prothrombin mutation, protein C/S/antithrombin levels) and acquired causes (e.g., antiphospholipid antibodies). Imaging studies (e.g., ultrasound, CT angiography) are used to detect clots.

Treatment:
Treatment focuses on preventing and managing thrombotic events. Anticoagulation with warfarin, direct oral anticoagulants (DOACs), or low-molecular-weight heparin (LMWH) is the mainstay. Duration of treatment depends on risk factors and the cause of hypercoagulability.

Medications:
Anticoagulants - Warfarin (vitamin K antagonist). Direct Oral Anticoagulants (DOACs) - Apixaban , Rivaroxaban , Edoxaban , or Dabigatran . Heparins - Unfractionated heparin (UFH) or low-molecular-weight heparin (LMWH, e.g., enoxaparin ). Antiplatelet Agents (for specific conditions) - Aspirin or Clopidogrel . Thrombolytics (for acute, severe thrombosis) - Alteplase or other tissue plasminogen activators (tPA). Targeted Therapies - Protein C concentrates or fresh frozen plasma in protein C/S deficiency, Danazol or antifibrinolytics in hereditary angioedema-related hypercoagulability.

Prevalence: How common the health condition is within a specific population.
Inherited thrombophilias affect up to 10% of the general population (e.g., Factor V Leiden in 5% of individuals of European descent). Acquired hypercoagulability is more variable, depending on underlying conditions like malignancy or antiphospholipid syndrome.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of thrombophilia, immobility (e.g., post-surgery or long travel), obesity, pregnancy, use of oral contraceptives or hormone replacement therapy, cancer, and autoimmune conditions.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying cause and management. With appropriate anticoagulation, most patients avoid recurrent thrombosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Recurrent thromboembolic events (DVT, pulmonary embolism), chronic post-thrombotic syndrome, organ damage (e.g., from arterial clots), and complications of anticoagulation therapy (e.g., bleeding).

Immune Thrombocytopenia (ITP)

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
easy or excessive bruising; petechiae (small red or purple spots on the skin); prolonged bleeding from cuts; spontaneous nosebleeds (epistaxis); bleeding gums; heavy menstrual periods; blood in urine or stool in severe cases

Root Cause:
An autoimmune disorder where antibodies target and destroy platelets, leading to thrombocytopenia and an increased risk of bleeding. The exact trigger is often unknown but may follow infections or be associated with other autoimmune conditions.

How it's Diagnosed: videos
Diagnosis is based on low platelet count (less than 100,000/micro L) in the absence of other causes of thrombocytopenia, often confirmed with bone marrow examination (to exclude other conditions) and peripheral blood smear.

Treatment:
Treatment depends on platelet count and bleeding severity. First-line therapies include corticosteroids and intravenous immunoglobulin (IVIG). In refractory cases, splenectomy or second-line therapies like rituximab or thrombopoietin receptor agonists are used.

Medications:
First-Line Treatments - Corticosteroids (e.g., prednisone , dexamethasone ) to suppress the immune response, Intravenous immunoglobulin (IVIG) to temporarily increase platelet count, Anti-D immunoglobulin for Rh-positive patients. Second-Line Treatments - Rituximab (anti-CD20 monoclonal antibody) to reduce antibody production, Thrombopoietin receptor agonists (e.g., romiplostim , eltrombopag ) to stimulate platelet production. Other Options - Immunosuppressive agents (e.g., azathioprine , mycophenolate mofetil), Fostamatinib (a spleen tyrosine kinase inhibitor).

Prevalence: How common the health condition is within a specific population.
Estimated prevalence is 2–5 per 100,000 individuals annually, with higher rates in children and older adults. Chronic ITP is more common in adults, particularly females.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Viral infections (e.g., Epstein-Barr virus, hepatitis C), autoimmune diseases (e.g., lupus), recent vaccinations, certain medications, and older age.

Prognosis: The expected outcome or course of the condition over time.
Many children with ITP recover spontaneously, while adults may experience a chronic course. With appropriate management, severe complications are rare.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding (e.g., intracranial hemorrhage), complications from long-term corticosteroid use (e.g., osteoporosis, diabetes), and infections following splenectomy.

Immune Thrombocytopenia (ITP) in Emergency Medicine

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
severe or sudden-onset bruising; extensive petechiae; spontaneous mucosal bleeding (e.g., nosebleeds, gum bleeding); blood in urine or stool; prolonged or excessive menstrual bleeding; life-threatening hemorrhage (e.g., intracranial or gastrointestinal) in rare cases

Root Cause:
Autoimmune destruction of platelets, often exacerbated by stress, infections, or trauma, leading to critically low platelet levels and a risk of severe bleeding.

How it's Diagnosed: videos
Emergency diagnosis focuses on platelet count, coagulation studies (to rule out other bleeding disorders), and clinical history. A peripheral blood smear helps exclude pseudothrombocytopenia or other hematological disorders.

Treatment:
Immediate treatment for severe bleeding includes intravenous immunoglobulin (IVIG), corticosteroids, platelet transfusions (in life-threatening bleeding), and antifibrinolytics. Emergency splenectomy is considered in refractory cases.

Medications:
High-Dose Corticosteroids - Intravenous methylprednisolone or oral dexamethasone for quick immune suppression. Intravenous Immunoglobulin (IVIG) - Administered to rapidly boost platelet counts in critical situations. Platelet Transfusion - Used in cases of severe bleeding, but only as a temporary measure. Emergent Splenectomy - Rarely performed in emergencies but considered in refractory, life-threatening cases.

Prevalence: How common the health condition is within a specific population.
Acute ITP in emergency settings is uncommon but can occur during severe disease exacerbations or in undiagnosed individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Viral infections, autoimmune conditions, recent surgery, certain medications, or trauma can precipitate acute ITP episodes.

Prognosis: The expected outcome or course of the condition over time.
Prompt intervention in emergency settings can stabilize patients and prevent severe complications. Long-term management depends on the chronicity and response to therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening bleeding, particularly intracranial hemorrhage; complications from transfusions (e.g., alloimmunization); and adverse effects of emergency treatments like corticosteroids or IVIG.

Immune Thrombocytopenia (ITP) and Pregnancy

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
low platelet count detected during routine pregnancy testing; easy bruising; petechiae (small red or purple spots on the skin); bleeding gums; prolonged bleeding from minor injuries; in rare cases, severe bleeding or postpartum hemorrhage

Root Cause:
Autoimmune-mediated destruction of platelets during pregnancy, with potential exacerbation due to physiological changes in platelet count during gestation. It poses risks to both maternal and neonatal health, as maternal antibodies can cross the placenta.

How it's Diagnosed: videos
Diagnosed by exclusion, based on low platelet count (less than 100,000/micro L) without other causes of thrombocytopenia. History and peripheral blood smear help rule out gestational thrombocytopenia or preeclampsia-associated thrombocytopenia.

Treatment:
Treatment is focused on managing bleeding risks. Corticosteroids or intravenous immunoglobulin (IVIG) are first-line therapies. Platelet transfusions are reserved for severe cases or imminent delivery. Delivery planning includes minimizing bleeding risks.

Medications:
First-Line Treatments - Corticosteroids (e.g., prednisone ): Used in the lowest effective dose to avoid long-term fetal exposure. Intravenous Immunoglobulin (IVIG) - Often preferred due to its safety and lack of significant side effects on the fetus. Second-Line Options (if first-line treatments fail) - Azathioprine - Considered safe during pregnancy for refractory cases. Thrombopoietin Receptor Agonists (e.g., eltrombopag , romiplostim ) - Generally avoided due to limited safety data in pregnancy. Avoided Medications - Rituximab and other immunosuppressive agents: Typically avoided due to potential risks to the fetus. Fostamatinib - Contraindicated during pregnancy.

Prevalence: How common the health condition is within a specific population.
ITP complicates 1–5 in 10,000 pregnancies. Gestational thrombocytopenia is more common but usually mild and resolves postpartum.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Pre-existing ITP, autoimmune disorders, and certain infections.

Prognosis: The expected outcome or course of the condition over time.
Most pregnancies progress uneventfully with appropriate management. Neonates may experience transient thrombocytopenia but typically recover without intervention.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Maternal complications include postpartum hemorrhage and severe thrombocytopenia during delivery. Neonatal complications include thrombocytopenia due to transplacental transfer of maternal antibodies, increasing the risk of intracranial hemorrhage.

Internal Jugular Vein Thrombosis (IJVT)

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
neck pain or tenderness; swelling along the neck; difficulty swallowing (dysphagia); visible neck vein distention; headache; fever if associated with infection; pulmonary symptoms in cases of embolism

Root Cause:
Formation of a blood clot in the internal jugular vein, often secondary to trauma, central venous catheterization, malignancy, infection, or hypercoagulable states. This can impair venous drainage and lead to complications like pulmonary embolism or septic thrombophlebitis.

How it's Diagnosed: videos
Ultrasound with Doppler imaging is the primary diagnostic tool. CT or MRI venography can be used for further assessment. Blood tests for D-dimer and hypercoagulable states may aid diagnosis.

Treatment:
Anticoagulation therapy with low-molecular-weight heparin (LMWH) or direct oral anticoagulants (DOACs) is the cornerstone of treatment. Antibiotics are added if infection is suspected. In rare cases, surgical intervention (thrombectomy) is needed.

Medications:
Anticoagulation Therapy - Low-Molecular-Weight Heparin (LMWH) (e.g., enoxaparin ) or unfractionated heparin (UFH) initially, Transition to oral anticoagulants like warfarin or Direct Oral Anticoagulants (DOACs) (e.g., rivaroxaban , apixaban ) for maintenance therapy. Antibiotics (if IJVT is associated with infection) - Broad-spectrum antibiotics are used, particularly if Lemierre’s syndrome (IJVT associated with Fusobacterium necrophorum) is suspected. Thrombolysis or Surgical Intervention - Considered in severe cases with extensive thrombosis or complications like pulmonary embolism.

Prevalence: How common the health condition is within a specific population.
Rare, with an estimated incidence of 0.2–1 per 100,000 people annually. It is more common in hospitalized patients with risk factors like central venous catheters or cancer.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Central venous catheterization, head and neck infections (e.g., Lemierre’s syndrome), malignancy, trauma, hypercoagulable disorders, and intravenous drug use.

Prognosis: The expected outcome or course of the condition over time.
Generally favorable with prompt treatment, although delayed diagnosis can lead to serious complications like pulmonary embolism or septicemia.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Pulmonary embolism, septic thrombophlebitis (Lemierre's syndrome), venous congestion, and, in rare cases, death.

Miscarriages Caused by Blood Coagulation Protein or Platelet Deficits

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
recurrent pregnancy loss (two or more consecutive miscarriages); fetal growth restriction; unexplained stillbirth; placental abruption in severe cases; evidence of thrombosis in other areas

Root Cause:
Miscarriages can result from hypercoagulable states (e.g., antiphospholipid syndrome), inherited thrombophilias (e.g., Factor V Leiden mutation), or platelet dysfunctions. These conditions impair placental circulation, leading to pregnancy loss.

How it's Diagnosed: videos
Diagnosis involves testing for antiphospholipid antibodies (lupus anticoagulant, anticardiolipin, and anti-beta-2 glycoprotein I antibodies), thrombophilia workup (e.g., genetic testing for Factor V Leiden or prothrombin mutation), and platelet function tests.

Treatment:
Treatment is tailored to the underlying cause. Low-dose aspirin and low-molecular-weight heparin (LMWH) are commonly used to improve placental circulation. For platelet dysfunction, treatments may include intravenous immunoglobulin (IVIG) or corticosteroids.

Medications:
Low-dose aspirin , low-molecular-weight heparin (e.g., enoxaparin ), and sometimes intravenous immunoglobulin (IVIG) or corticosteroids for immune-related platelet deficits.

Prevalence: How common the health condition is within a specific population.
Recurrent pregnancy loss affects approximately 1–2% of couples. Thrombophilic causes account for a significant proportion of these cases, particularly in women with a history of clotting disorders.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
History of thrombosis, known thrombophilic mutations, antiphospholipid syndrome, autoimmune diseases (e.g., lupus), obesity, advanced maternal age, and previous pregnancy complications.

Prognosis: The expected outcome or course of the condition over time.
With appropriate treatment, many women with thrombophilia or platelet deficits can achieve successful pregnancies. Early and multidisciplinary management improves outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Placental insufficiency, preeclampsia, fetal growth restriction, and recurrent pregnancy loss.

Nonplatelet Hemostatic Disorders

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding from injuries or surgery; spontaneous bleeding in soft tissues or muscles; joint bleeding (hemarthrosis); easy bruising; nosebleeds (epistaxis); excessive menstrual bleeding in females

Root Cause:
Disorders involving clotting factor deficiencies or dysfunctions, such as hemophilia A (Factor VIII deficiency), hemophilia B (Factor IX deficiency), or von Willebrand disease, which impair the body's ability to form stable clots.

How it's Diagnosed: videos
Diagnosed using coagulation studies like prolonged activated partial thromboplastin time (aPTT), factor assays to identify specific clotting factor deficiencies, and tests for von Willebrand factor levels and function.

Treatment:
Treatment depends on the specific condition and involves replacement of deficient factors using recombinant or plasma-derived concentrates. For von Willebrand disease, desmopressin or von Willebrand factor concentrates are used.

Medications:
Desmopressin (DDAVP) for mild hemophilia A or von Willebrand disease, factor replacement therapy (e.g., factor VIII, IX, or recombinant products), antifibrinolytics (e.g., tranexamic acid), and in specific cases, fibrinogen concentrates or prothrombin complex concentrates (PCCs).

Prevalence: How common the health condition is within a specific population.
Varies widely; hemophilia A affects approximately 1 in 5,000 males, hemophilia B affects 1 in 25,000 males, and von Willebrand disease affects about 1% of the population, though many cases are mild and undiagnosed.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, family history of bleeding disorders, and in rare cases, acquired deficiencies due to autoimmune conditions or liver disease.

Prognosis: The expected outcome or course of the condition over time.
With proper diagnosis and management, most individuals can live normal lives, though severe forms may require lifelong treatment and monitoring.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding episodes, chronic joint damage (in hemophilia), and complications from transfusions or factor concentrates, such as inhibitors or infections (historically).

Paradoxical Embolism

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
sudden onset of stroke symptoms (e.g., weakness, slurred speech, facial droop); transient ischemic attacks (tias); unexplained peripheral embolism (e.g., limb ischemia); pulmonary symptoms if associated with venous thromboembolism; possible migraine with aura in some cases

Root Cause:
Occurs when a venous thrombus bypasses the pulmonary circulation and enters the arterial system, typically through a right-to-left shunt like a patent foramen ovale (PFO) or atrial septal defect (ASD). This allows clots to bypass the lungs' filtering mechanism.

How it's Diagnosed: videos
Diagnosis involves imaging studies like transesophageal echocardiography (TEE) with bubble study to identify a right-to-left shunt, along with Doppler ultrasound to detect venous thrombi. MRI or CT scans assess embolic events in the brain or other organs.

Treatment:
Acute treatment includes thrombolysis or thrombectomy for embolic events. Long-term management focuses on anticoagulation (e.g., warfarin or direct oral anticoagulants) or closure of the shunt (e.g., percutaneous PFO closure) to prevent recurrence.

Medications:
Anticoagulants (e.g., warfarin , rivaroxaban , or apixaban ) to prevent further clot formation and, in certain cases, antiplatelet agents (e.g., aspirin ) or thrombolytics for acute embolic events, with closure of the atrial septal defect or patent foramen ovale considered in recurrent cases.

Prevalence: How common the health condition is within a specific population.
PFOs are present in about 25–30% of the general population, though not all cause paradoxical embolism. The condition is rare but more common in younger patients presenting with cryptogenic stroke.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Deep vein thrombosis, prolonged immobility, hypercoagulable disorders, presence of a right-to-left shunt (e.g., PFO, ASD), and genetic thrombophilias.

Prognosis: The expected outcome or course of the condition over time.
With appropriate treatment, the risk of recurrence is low. Closure of PFO or long-term anticoagulation significantly reduces the chance of future embolic events.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Recurrent strokes, transient ischemic attacks (TIAs), peripheral arterial embolism, and complications from anticoagulant therapy (e.g., bleeding).

Platelet Disorders

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
prolonged bleeding from minor cuts; easy bruising; petechiae (small red or purple spots on the skin); frequent nosebleeds (epistaxis); gum bleeding; heavy menstrual bleeding (menorrhagia); spontaneous bleeding in severe cases

Root Cause:
Platelet disorders can involve quantitative abnormalities (thrombocytopenia or thrombocytosis) or qualitative defects in platelet function. They impair the body's ability to form stable clots, increasing the risk of bleeding.

How it's Diagnosed: videos
Diagnosis is based on platelet count, peripheral blood smear, and specialized platelet function tests (e.g., platelet aggregation studies, flow cytometry). Genetic testing may identify inherited disorders like Glanzmann thrombasthenia.

Treatment:
Treatment depends on the specific disorder. Thrombocytopenia may require corticosteroids, intravenous immunoglobulin (IVIG), or platelet transfusions. Platelet function disorders are managed with antifibrinolytics, recombinant factor VIIa, or desmopressin.

Medications:
Medications to treat platelet disorders depend on the condition and include desmopressin (DDAVP) for platelet function defects, antifibrinolytics (e.g., tranexamic acid) for bleeding control, corticosteroids, intravenous immunoglobulin (IVIG), or thrombopoietin receptor agonists (e.g., eltrombopag , romiplostim ) for immune thrombocytopenia, and platelet transfusions for severe thrombocytopenia or dysfunction.

Prevalence: How common the health condition is within a specific population.
The prevalence varies depending on the disorder. For example, immune thrombocytopenia (ITP) affects 2–5 per 100,000 individuals annually, while inherited disorders like Bernard-Soulier syndrome are extremely rare.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition (inherited disorders), autoimmune conditions, certain medications (e.g., chemotherapy, heparin), infections, and bone marrow suppression.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the specific condition. With appropriate treatment, many platelet disorders can be managed effectively, although severe inherited conditions may require lifelong care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding episodes, intracranial hemorrhage, chronic anemia from frequent blood loss, and complications from platelet transfusions, such as alloimmunization or infections.

Protein C Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
deep vein thrombosis (dvt); pulmonary embolism; unusual blood clots in veins; swelling and pain in affected areas; skin necrosis (especially when using warfarin)

Root Cause:
A genetic or acquired deficiency in protein C, which is a vitamin K-dependent anticoagulant protein essential for regulating blood clotting and preventing excessive clot formation.

How it's Diagnosed: videos
Blood tests to measure protein C activity and levels, genetic testing for inherited mutations, and evaluation of clotting history.

Treatment:
Anticoagulation therapy (e.g., low-molecular-weight heparin or direct oral anticoagulants), avoidance of risk factors for thrombosis, and long-term prophylactic anticoagulation in severe cases.

Medications:
Anticoagulants such as warfarin , low-molecular-weight heparin (LMWH), and direct oral anticoagulants (DOACs) like apixaban or rivaroxaban . These medications belong to the "anticoagulant" drug class.

Prevalence: How common the health condition is within a specific population.
Estimated to occur in 1 in 200 to 1 in 500 individuals, with a higher prevalence in individuals with a personal or family history of thrombosis.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Protein C Deficiency, pregnancy, oral contraceptive use, surgery, immobility, cancer, and advanced age.

Prognosis: The expected outcome or course of the condition over time.
Generally manageable with appropriate anticoagulation therapy, but the risk of recurrent clots is high without treatment. Severe deficiency can lead to life-threatening complications, especially in newborns.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Recurrent venous thromboembolism (VTE), neonatal purpura fulminans in severe cases, warfarin-induced skin necrosis, and organ damage from thrombosis.

Protein S Deficiency

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
deep vein thrombosis (dvt); pulmonary embolism; unusual thrombosis in veins or arteries; swelling, redness, and pain in affected areas; possible stroke symptoms in arterial clots

Root Cause:
A deficiency in protein S, a vitamin K-dependent glycoprotein that functions as a cofactor for protein C to regulate blood clot formation.

How it's Diagnosed: videos
Blood tests to measure free and total protein S levels, protein S activity tests, genetic testing for inherited mutations, and clinical history of thrombosis.

Treatment:
Anticoagulation therapy (e.g., warfarin, LMWH, or DOACs), lifestyle modifications to reduce clotting risk, and long-term anticoagulation in severe cases.

Medications:
Warfarin (a vitamin K antagonist), LMWH, and DOACs such as dabigatran , apixaban , or rivaroxaban . These medications are classified as anticoagulants.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 500 individuals, with increased frequency in those with a personal or family history of thrombotic events.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of Protein S Deficiency, pregnancy, oral contraceptive use, prolonged immobility, surgery, and malignancy.

Prognosis: The expected outcome or course of the condition over time.
Manageable with anticoagulant therapy; however, untreated cases carry a significant risk of recurrent thrombotic events. Severe deficiency can result in neonatal purpura fulminans or other life-threatening thrombotic complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Recurrent venous thromboembolism, arterial thrombotic events, warfarin-induced skin necrosis, and long-term damage to affected tissues and organs.

Secondary Thrombocytosis

Specialty: Hematology

Category: Coagulation, Hemostasis, and Disorders

Symptoms:
elevated platelet count on blood tests; headaches; dizziness; chest pain; numbness or tingling in the extremities; bleeding or clotting tendencies (rare)

Root Cause:
Increased platelet production as a reactive response to another condition, such as inflammation, infection, iron deficiency, or cancer.

How it's Diagnosed: videos
Blood tests (complete blood count with differential, peripheral smear), inflammatory markers (CRP, ESR), and evaluation of underlying causes.

Treatment:
Management of the underlying condition; platelet-lowering treatment is typically not necessary unless symptomatic or very high counts.

Medications:
Platelet-lowering medications like hydroxyurea (a myelosuppressive agent) may be used in rare cases. Inflammation or infection might be treated with anti-inflammatory drugs or antibiotics. Iron deficiency is corrected with iron supplements.

Prevalence: How common the health condition is within a specific population.
Common in certain populations with chronic inflammation, infection, or malignancies; prevalence depends on the underlying condition.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic infections, inflammation, iron deficiency, splenectomy, and malignancies.

Prognosis: The expected outcome or course of the condition over time.
Good if the underlying cause is identified and treated; platelet levels typically normalize with resolution of the primary condition.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Rare, but may include thrombosis or bleeding in cases of extreme platelet elevation.

Superficial Thrombophlebitis

Specialty: Hematology

Category: Venous Disorders

Sub-category: Thrombophlebitis

Symptoms:
localized pain and tenderness; redness and warmth along the vein; a palpable cord-like vein; swelling in the affected area

Root Cause:
Inflammation and thrombosis in a superficial vein, often triggered by trauma, intravenous catheters, or varicose veins.

How it's Diagnosed: videos
Clinical examination, Doppler ultrasound to rule out deeper venous involvement.

Treatment:
Symptomatic treatment with warm compresses, NSAIDs (e.g., ibuprofen), compression stockings; anticoagulation if there's extension into the deep venous system.

Medications:
NSAIDs like ibuprofen (anti-inflammatory), anticoagulants such as low-molecular-weight heparin (LMWH) or direct oral anticoagulants (DOACs) if indicated.

Prevalence: How common the health condition is within a specific population.
Fairly common, especially in people with varicose veins or those using intravenous catheters.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Varicose veins, prolonged immobility, intravenous catheter use, hypercoagulable states, malignancy.

Prognosis: The expected outcome or course of the condition over time.
Excellent with appropriate treatment; resolves within weeks. Rarely progresses to deep vein thrombosis (DVT).

Complications: Additional problems or conditions that may arise as a result of the original condition.
Extension into deep veins causing DVT, pulmonary embolism in rare cases.

Venous Thromboembolism (VTE)

Specialty: Hematology

Category: Venous Disorders

Sub-category: Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE)

Symptoms:
leg swelling and pain (dvt); shortness of breath (pe); chest pain; rapid heart rate; coughing up blood (in pe)

Root Cause:
Formation of blood clots in veins due to Virchow's triad

How it's Diagnosed: videos
D-dimer testing, Doppler ultrasound (for DVT), CT pulmonary angiography (for PE).

Treatment:
Anticoagulation (warfarin, DOACs like apixaban, rivaroxaban), thrombolysis for severe PE or extensive DVT, compression stockings for DVT.

Medications:
Anticoagulants (e.g., warfarin , DOACs like rivaroxaban , apixaban ), thrombolytics (e.g., alteplase for massive PE).

Prevalence: How common the health condition is within a specific population.
Affects 1-2 per 1,000 people annually in the general population.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Surgery, prolonged immobility, cancer, pregnancy, oral contraceptives, inherited thrombophilias.

Prognosis: The expected outcome or course of the condition over time.
Good with early treatment; risk of recurrence if underlying risk factors are not addressed.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Pulmonary embolism, post-thrombotic syndrome, chronic thromboembolic pulmonary hypertension.

von Willebrand Disease

Specialty: Hematology

Category: Bleeding Disorders

Symptoms:
easy bruising; frequent nosebleeds; prolonged bleeding from cuts; heavy menstrual bleeding; excessive bleeding after surgery or dental procedures

Root Cause:
Deficiency or dysfunction of von Willebrand factor (vWF), leading to impaired platelet adhesion and secondary clotting defects.

How it's Diagnosed: videos
Coagulation studies (PT, aPTT), von Willebrand factor antigen and activity assays, and multimer analysis.

Treatment:
Desmopressin (DDAVP) for mild cases, vWF concentrates for severe cases, antifibrinolytics for bleeding prevention.

Medications:
Desmopressin (synthetic hormone to release stored vWF), vWF concentrates (replacement therapy), antifibrinolytics like tranexamic acid (to prevent breakdown of clots).

Prevalence: How common the health condition is within a specific population.
Most common inherited bleeding disorder, affecting approximately 1% of the population.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of von Willebrand disease.

Prognosis: The expected outcome or course of the condition over time.
Generally good with appropriate management; most cases are mild.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding during surgery or trauma, menorrhagia-related anemia.

Pure B-Cell Disorders

Specialty: Hematology

Category: Disorders of Lymphocytic Function

Symptoms:
frequent bacterial infections; recurrent respiratory tract infections; poor response to vaccines; failure to thrive in infants

Root Cause:
Dysfunction or absence of B lymphocytes, leading to impaired production of antibodies.

How it's Diagnosed: videos
Blood tests for B-cell count, immunoglobulin levels, and specific antibody responses; genetic testing in some cases.

Treatment:
Immunoglobulin replacement therapy (intravenous or subcutaneous), prophylactic antibiotics, and bone marrow transplantation in severe cases.

Medications:
Immunoglobulin therapy (e.g., intravenous immunoglobulin [IVIG] or subcutaneous immunoglobulin [SCIG]), prophylactic antibiotics like trimethoprim-sulfamethoxazole (antibiotic), and antifungal agents if indicated.

Prevalence: How common the health condition is within a specific population.
Rare; exact prevalence depends on the specific type of B-cell disorder but can be as low as 1 in 100,000.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of immunodeficiencies, genetic mutations affecting B-cell development or function.

Prognosis: The expected outcome or course of the condition over time.
Variable; with treatment, many individuals can manage symptoms effectively, but severe cases may have life-threatening complications if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe infections (e.g., pneumonia, meningitis), failure to thrive, and potential progression to life-threatening systemic infections.

Acute Intermittent Porphyria (AIP)

Specialty: Hematology

Category: Heme Synthesis and Disorders

Symptoms:
abdominal pain; nausea; vomiting; constipation; muscle weakness; confusion; anxiety; seizures; dark-colored urine

Root Cause:
Deficiency of the enzyme porphobilinogen deaminase (PBGD), leading to the accumulation of heme precursors such as delta-aminolevulinic acid (ALA) and porphobilinogen (PBG).

How it's Diagnosed: videos
Measurement of urinary porphobilinogen (PBG) levels during an acute attack; genetic testing to confirm enzyme mutations.

Treatment:
Avoiding triggers (e.g., certain drugs, fasting, stress), intravenous administration of hemin, high carbohydrate intake during attacks.

Medications:
Hemin (a heme analog used to suppress heme synthesis); glucose infusions for mild attacks to inhibit ALA synthase.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 20,000 individuals; more common in women than men.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Female sex, hormonal fluctuations, certain medications (e.g., barbiturates, sulfa drugs), fasting, alcohol consumption.

Prognosis: The expected outcome or course of the condition over time.
With proper management, acute attacks are treatable; however, untreated attacks can lead to complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Permanent neurological damage, chronic pain, liver cancer (in rare cases).

ALA Dehydratase Deficiency Porphyria (ALADP)

Specialty: Hematology

Category: Heme Synthesis and Disorders

Symptoms:
severe abdominal pain; nausea; vomiting; neuropathy; weakness; dark-colored urine

Root Cause:
Deficiency of the enzyme ALA dehydratase, resulting in elevated levels of ALA in the plasma and urine.

How it's Diagnosed: videos
Elevated urinary ALA levels, enzyme assays showing low ALA dehydratase activity, genetic testing.

Treatment:
Hemin administration, carbohydrate loading, and avoidance of triggers.

Medications:
Hemin (to downregulate ALA production); glucose infusions for supportive management.

Prevalence: How common the health condition is within a specific population.
Extremely rare, with fewer than 10 reported cases worldwide.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, exposure to heavy metals (e.g., lead poisoning).

Prognosis: The expected outcome or course of the condition over time.
Chronic management is required to prevent acute attacks; outcomes depend on the severity and frequency of symptoms.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Neurological deficits, kidney damage.

Chester Porphyria

Specialty: Hematology

Category: Heme Synthesis and Disorders

Symptoms:
photosensitivity; skin fragility; mild abdominal pain; neuropathy

Root Cause:
Rare variant of porphyria, characterized by enzyme dysfunctions in the heme synthesis pathway.

How it's Diagnosed: videos
Abnormal levels of porphyrins in urine, stool, and plasma; genetic testing for rare mutations.

Treatment:
Avoidance of sunlight exposure, hemin infusions, and symptomatic management.

Medications:
Hemin (for acute attacks); beta-carotene (to reduce photosensitivity).

Prevalence: How common the health condition is within a specific population.
Extremely rare, with cases limited to specific familial clusters.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of porphyria, environmental triggers.

Prognosis: The expected outcome or course of the condition over time.
Management of symptoms leads to stable outcomes; rare complications possible.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Photosensitivity-related skin damage, chronic pain.

Hereditary Coproporphyria (HCP)

Specialty: Hematology

Category: Heme Synthesis and Disorders

Symptoms:
abdominal pain; nausea; vomiting; neuropathy; photosensitivity; dark urine

Root Cause:
Deficiency of the enzyme coproporphyrinogen oxidase, leading to the accumulation of porphyrins in the liver and plasma.

How it's Diagnosed: videos
Elevated levels of coproporphyrins in urine and stool; genetic testing.

Treatment:
Avoiding triggers, administration of hemin for acute attacks, high carbohydrate intake during symptomatic episodes.

Medications:
Hemin (to inhibit ALA synthase); glucose infusions for mild attacks.

Prevalence: How common the health condition is within a specific population.
Rare, with a prevalence of approximately 1 in 1,000,000.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, hormonal changes, fasting, certain medications (e.g., sulfonamides).

Prognosis: The expected outcome or course of the condition over time.
Treatable; acute episodes can be effectively managed.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Neurological damage, chronic pain, photosensitivity-related skin damage.

Porphyria Overview

Specialty: Hematology

Category: Heme Synthesis and Disorders

Symptoms:
abdominal pain; neuropathy; photosensitivity; dark urine; fatigue

Root Cause:
Disorders caused by defects in heme biosynthesis enzymes, leading to the accumulation of porphyrins or their precursors.

How it's Diagnosed: videos
Biochemical analysis of urine, stool, and blood for porphyrins; genetic testing to identify specific mutations.

Treatment:
Symptom management, avoidance of triggers, hemin administration, high carbohydrate diets for acute attacks.

Medications:
Hemin (to control attacks); beta-carotene for photosensitivity.

Prevalence: How common the health condition is within a specific population.
Varies widely among types; AIP is most common, with a prevalence of 1 in 20,000.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, environmental factors, hormonal fluctuations.

Prognosis: The expected outcome or course of the condition over time.
Varies by type; manageable with appropriate treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Neuropathy, chronic pain, liver cancer (in severe cases).

Eosinophilia

Specialty: Hematology

Category: Immune System and Disorders

Symptoms:
fatigue; rash; itching; fever; shortness of breath; abdominal pain

Root Cause:
Elevated eosinophil count in the blood or tissues, often due to allergic reactions, parasitic infections, autoimmune diseases, or malignancies.

How it's Diagnosed: videos
Complete blood count (CBC) with differential, evaluation of medical history, imaging studies, and testing for parasitic or autoimmune causes.

Treatment:
Treatment focuses on addressing the underlying cause (e.g., treating infections, managing allergies, or suppressing immune responses).

Medications:
Corticosteroids (e.g., prednisone , to reduce inflammation), antihistamines (for allergic symptoms), and antiparasitic agents (e.g., albendazole , ivermectin , for parasitic infections). Biologics like mepolizumab may be used for refractory cases.

Prevalence: How common the health condition is within a specific population.
Varies; higher in areas with endemic parasitic infections. Often occurs in individuals with allergies or asthma.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Allergic disorders, parasitic infections, autoimmune diseases, exposure to certain medications (e.g., antibiotics, NSAIDs).

Prognosis: The expected outcome or course of the condition over time.
Depends on the underlying cause; manageable with appropriate treatment but may require ongoing monitoring for chronic or severe cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Organ damage (e.g., heart, lungs, skin) in cases of hypereosinophilic syndrome; increased risk of infections if associated with immune dysfunction.

Hyperviscosity Syndrome

Specialty: Hematology

Category: Blood Disorders

Symptoms:
blurred vision; headache; dizziness; nosebleeds; easy bruising; fatigue; altered mental status

Root Cause:
Increased blood viscosity due to elevated levels of proteins (e.g., IgM in Waldenström macroglobulinemia), red blood cells, or other components.

How it's Diagnosed: videos
Blood tests (e.g., serum viscosity levels, CBC), clinical symptoms, and testing for underlying disorders like monoclonal gammopathies.

Treatment:
Plasma exchange (plasmapheresis) to reduce viscosity, treatment of the underlying cause (e.g., chemotherapy for plasma cell disorders).

Medications:
Chemotherapy agents (e.g., rituximab for lymphoproliferative disorders), antiplatelet agents like aspirin (to reduce clotting risk).

Prevalence: How common the health condition is within a specific population.
Rare; associated with specific conditions like Waldenström macroglobulinemia and polycythemia vera.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Plasma cell dyscrasias, polycythemia vera, multiple myeloma, high serum protein levels.

Prognosis: The expected outcome or course of the condition over time.
Depends on the underlying cause; reversible with timely treatment but may lead to severe complications if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Retinal vein occlusion, stroke, organ ischemia, and heart failure.

Kikuchi Disease

Specialty: Hematology

Category: Immune System and Disorders

Symptoms:
fever; lymphadenopathy (swollen lymph nodes); night sweats; fatigue; weight loss

Root Cause:
Self-limiting inflammatory disorder, likely triggered by viral or autoimmune mechanisms, characterized by histiocytic necrotizing lymphadenitis.

How it's Diagnosed: videos
Lymph node biopsy showing characteristic histopathological findings; exclusion of malignancies and infections.

Treatment:
Supportive care; anti-inflammatory medications (e.g., NSAIDs, corticosteroids for severe cases).

Medications:
NSAIDs (e.g., ibuprofen for pain and inflammation), corticosteroids (e.g., prednisone for severe or refractory cases).

Prevalence: How common the health condition is within a specific population.
Rare; most common in young adults, particularly females, in Asian populations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Viral infections, autoimmune predisposition.

Prognosis: The expected outcome or course of the condition over time.
Excellent; resolves spontaneously in most cases within 1–6 months.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Rare but may include recurrence or association with systemic lupus erythematosus (SLE).

Neutropenia

Specialty: Hematology

Category: Blood Disorders

Symptoms:
frequent infections; fever; mouth sores; gingivitis; skin abscesses

Root Cause:
Low neutrophil count, often caused by bone marrow suppression, autoimmune disorders, infections, or medications.

How it's Diagnosed: videos
CBC with differential, evaluation of bone marrow function, and testing for infections or autoimmune markers.

Treatment:
Treatment of the underlying cause, granulocyte colony-stimulating factor (G-CSF), and prophylactic antibiotics for severe cases.

Medications:
G-CSF (e.g., filgrastim to stimulate neutrophil production), prophylactic antibiotics (e.g., ciprofloxacin ), and antifungals (e.g., fluconazole ).

Prevalence: How common the health condition is within a specific population.
Common as a complication of chemotherapy or certain infections; varies widely based on underlying cause.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chemotherapy, autoimmune diseases, congenital conditions, viral infections.

Prognosis: The expected outcome or course of the condition over time.
Depends on severity and cause; reversible in many cases but may lead to severe infections if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening infections, sepsis, organ damage from uncontrolled infection.

Neutrophilia

Specialty: Hematology

Category: Blood Disorders

Symptoms:
fever; fatigue; inflammation; redness or swelling at infection sites; asymptomatic in mild cases

Root Cause:
Elevated neutrophil count due to infections, inflammation, stress, medications, or malignancies such as myeloproliferative disorders.

How it's Diagnosed: videos
CBC with differential, evaluation for infections or inflammatory markers, and tests to rule out underlying hematologic conditions.

Treatment:
Addressing the underlying cause (e.g., treating infection or discontinuing causative medications).

Medications:
None specific to neutrophilia itself; antibiotics for infections, or targeted therapies for hematologic malignancies if present.

Prevalence: How common the health condition is within a specific population.
Common; occurs in response to infections, stress, or other stimuli.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Bacterial infections, inflammatory disorders, smoking, corticosteroid use, hematologic disorders.

Prognosis: The expected outcome or course of the condition over time.
Excellent when due to reactive causes; variable in cases of underlying malignancy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Rare; may indicate serious conditions like leukemia if persistent.

Paroxysmal Cold Hemoglobinuria (PCH)

Specialty: Hematology

Category: Hemolytic Disorders

Sub-category: Autoimmune Hemolytic Anemias

Symptoms:
dark urine after cold exposure; fatigue; pallor; jaundice; fever; abdominal pain; back pain

Root Cause:
Autoimmune destruction of red blood cells triggered by cold exposure; mediated by Donath-Landsteiner antibodies.

How it's Diagnosed: videos
Donath-Landsteiner test (for biphasic hemolysis), CBC with evidence of hemolysis (low hemoglobin, high reticulocytes), and urine tests for hemoglobinuria.

Treatment:
Avoidance of cold exposure, supportive care (e.g., transfusions), and immunosuppressive therapy in severe cases.

Medications:
Corticosteroids (e.g., prednisone ), immunosuppressants (e.g., rituximab for refractory cases).

Prevalence: How common the health condition is within a specific population.
Rare; primarily affects children following viral infections.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Recent viral infection, cold exposure, autoimmune predisposition.

Prognosis: The expected outcome or course of the condition over time.
Generally good; self-limited in post-infectious cases, but may require treatment in chronic or severe cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, kidney damage due to hemoglobinuria.

Splenomegaly

Specialty: Hematology

Category: Lymphatic and Hematologic Disorders

Symptoms:
abdominal pain or fullness; fatigue; anemia; easy bruising; frequent infections

Root Cause:
Enlargement of the spleen due to infections, hematologic disorders, liver disease, or malignancies.

How it's Diagnosed: videos
Physical examination, imaging studies (e.g., ultrasound, CT), and blood tests to identify the underlying cause.

Treatment:
Treatment of the underlying condition; splenectomy in severe or refractory cases.

Medications:
Antibiotics for infections, chemotherapeutic agents for hematologic malignancies, and immunosuppressants for autoimmune causes.

Prevalence: How common the health condition is within a specific population.
Common in conditions like malaria, chronic liver disease, or hematologic malignancies.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic infections, hematologic malignancies, autoimmune disorders, liver disease.

Prognosis: The expected outcome or course of the condition over time.
Depends on the underlying cause; generally improves with appropriate treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Rupture, hypersplenism (leading to cytopenias), increased susceptibility to infections.

Systemic Mastocytosis

Specialty: Hematology

Category: Mast Cell Disorders

Symptoms:
flushing; abdominal pain; diarrhea; anaphylaxis; bone pain; itching; skin lesions

Root Cause:
Abnormal proliferation and accumulation of mast cells in multiple organs, often driven by mutations like KIT D816V.

How it's Diagnosed: videos
Bone marrow biopsy, KIT mutation analysis, serum tryptase levels, and clinical presentation.

Treatment:
Symptom management (antihistamines, mast cell stabilizers), cytoreductive therapy for advanced cases.

Medications:
H1 and H2 antihistamines (e.g., loratadine , ranitidine), leukotriene inhibitors (e.g., montelukast ), and tyrosine kinase inhibitors (e.g., midostaurin for advanced cases).

Prevalence: How common the health condition is within a specific population.
Rare; incidence estimated at 1 in 10,000–20,000 individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., KIT D816V), familial mastocytosis.

Prognosis: The expected outcome or course of the condition over time.
Variable; indolent forms have a good prognosis, while aggressive forms may have significant morbidity and mortality.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Organ dysfunction, osteoporosis, anaphylaxis, and increased risk of secondary malignancies.

Burkitt Lymphoma and Burkitt-like Lymphoma

Specialty: Hematology

Category: Lymphoproliferative Disorders

Symptoms:
rapidly enlarging tumor masses; fever; night sweats; weight loss; abdominal pain or swelling; jaw or facial bone tumors in endemic cases; intestinal obstruction

Root Cause:
Abnormal and rapid proliferation of B-lymphocytes due to genetic mutations, often involving the MYC gene. Frequently associated with Epstein-Barr virus (EBV) in endemic cases.

How it's Diagnosed: videos
Diagnosis is made through biopsy and histopathological examination, immunohistochemistry, cytogenetic analysis (identification of MYC gene translocation), and imaging studies (e.g., CT or MRI for tumor localization).

Treatment:
Treatment typically involves aggressive chemotherapy regimens, such as the CODOX-M/IVAC protocol, supportive care, and in some cases, intrathecal chemotherapy for CNS prophylaxis.

Medications:
Cyclophosphamide (alkylating agent). Doxorubicin (anthracycline antibiotic). Vincristine (vinca alkaloid). Methotrexate (antimetabolite). Cytarabine (antimetabolite). Rituximab (monoclonal antibody targeting CD20 on B cells)

Prevalence: How common the health condition is within a specific population.
Rare; accounts for approximately 1–2% of all adult lymphomas and 30–50% of childhood non-Hodgkin lymphomas.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Infection with Epstein-Barr virus (EBV), HIV infection, malaria (in endemic regions), and genetic predisposition (e.g., MYC gene translocation).

Prognosis: The expected outcome or course of the condition over time.
Prognosis is highly dependent on early diagnosis and treatment. Cure rates exceed 80% in localized cases but decrease significantly in advanced stages or relapsed cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Potential complications include tumor lysis syndrome, CNS involvement, intestinal perforation, and relapse after treatment.

Castleman Disease

Specialty: Hematology

Category: Lymphoproliferative Disorders

Symptoms:
enlarged lymph nodes; fatigue; fever; night sweats; unintended weight loss; weakness; nausea; abdominal or chest pain

Root Cause:
Lymph node hyperplasia due to dysregulated immune responses. May be idiopathic or associated with viral infections such as human herpesvirus 8 (HHV-8).

How it's Diagnosed: videos
Diagnosis involves lymph node biopsy, imaging studies (CT or PET scans), blood tests to detect inflammation markers, and tests for HHV-8 and HIV.

Treatment:
Treatment depends on the subtype (unicentric or multicentric). Unicentric disease is treated with surgical removal of the affected lymph node, while multicentric disease often requires systemic therapy.

Medications:
Siltuximab (monoclonal antibody targeting IL-6). Rituximab (monoclonal antibody targeting CD20, especially for HHV-8–positive cases). Corticosteroids (to reduce inflammation). Chemotherapeutic agents (e.g., cyclophosphamide , doxorubicin ). Antiviral medications (e.g., ganciclovir for HHV-8 infections). These medications include biologics, immunomodulators, and chemotherapeutic agents.

Prevalence: How common the health condition is within a specific population.
Rare; incidence is estimated at 21–25 cases per million per year.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Infection with human herpesvirus 8 (HHV-8), HIV infection, and possibly autoimmune conditions.

Prognosis: The expected outcome or course of the condition over time.
Prognosis for unicentric disease is excellent after surgical excision, while prognosis for multicentric disease varies based on the underlying cause, age, and treatment response.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Complications may include organ dysfunction, infection due to immunosuppression, progression to lymphoma, and systemic inflammatory response syndrome (SIRS).

Familial Renal Amyloidosis

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
proteinuria; edema (swelling); fatigue; hypertension; renal failure; weight loss; neuropathy

Root Cause:
Deposition of amyloid fibrils in the kidneys, caused by inherited mutations in genes encoding amyloidogenic proteins (e.g., transthyretin or fibrinogen).

How it's Diagnosed: videos
Biopsy of kidney tissue with Congo red staining, genetic testing for amyloidogenic mutations, serum and urine protein electrophoresis.

Treatment:
Organ transplantation (e.g., kidney), suppression of amyloid precursor proteins through liver transplantation (if related to transthyretin), and supportive renal care.

Medications:
Tafamidis (transthyretin stabilizer) or diflunisal (NSAID that stabilizes transthyretin). These medications help reduce amyloid formation. Other treatments may include diuretics for edema and antihypertensives for blood pressure management.

Prevalence: How common the health condition is within a specific population.
Rare; exact prevalence varies depending on the specific mutation and geographic region.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of amyloidosis, specific gene mutations (e.g., transthyretin variants like V30M), and advanced age.

Prognosis: The expected outcome or course of the condition over time.
Varies depending on the mutation and treatment; kidney function may be preserved with early diagnosis and intervention, but progression to renal failure is possible.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, end-stage renal failure, systemic amyloidosis affecting other organs (e.g., heart, nerves).

Gamma Heavy Chain Disease

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
lymphadenopathy; splenomegaly; fatigue; weight loss; fever; night sweats

Root Cause:
Abnormal production of truncated gamma heavy chains by plasma cells, often associated with lymphoproliferative disorders.

How it's Diagnosed: videos
Serum protein electrophoresis (SPEP), immunofixation electrophoresis, biopsy of lymphoid tissue, and imaging studies (e.g., CT or PET scan).

Treatment:
Chemotherapy (e.g., CHOP regimen) or targeted therapy depending on the underlying lymphoproliferative disorder; supportive care.

Medications:
Chemotherapeutic agents (e.g., cyclophosphamide , doxorubicin , vincristine , prednisone ) and monoclonal antibodies (e.g., rituximab for associated B-cell lymphomas).

Prevalence: How common the health condition is within a specific population.
Extremely rare; predominantly reported in middle-aged and older individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, underlying lymphoproliferative disorders, and possibly genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Variable; dependent on the associated condition. Prognosis improves with effective treatment of the underlying disorder.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Transformation to aggressive lymphoma, systemic amyloidosis, or organ dysfunction.

Immunoglobulin-Related Amyloidosis

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
fatigue; edema; dyspnea; neuropathy; cardiac arrhythmias; proteinuria

Root Cause:
Misfolded immunoglobulin light chains or fragments aggregate to form amyloid deposits, affecting multiple organs (e.g., kidneys, heart, liver).

How it's Diagnosed: videos
Tissue biopsy with Congo red staining, mass spectrometry to confirm amyloid type, serum and urine immunofixation electrophoresis, and free light chain assay.

Treatment:
Chemotherapy targeting plasma cells (e.g., bortezomib, dexamethasone), autologous stem cell transplantation, and supportive care for organ-specific symptoms.

Medications:
Bortezomib (proteasome inhibitor), cyclophosphamide (alkylating agent), and dexamethasone (corticosteroid) are common. Monoclonal antibodies like daratumumab may also be used.

Prevalence: How common the health condition is within a specific population.
Rare; approximately 4,000 new cases annually in the U.S.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Monoclonal gammopathies (e.g., MGUS, multiple myeloma), age > 60, and male gender.

Prognosis: The expected outcome or course of the condition over time.
Varies based on organ involvement and response to therapy; cardiac involvement worsens prognosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart failure, renal failure, autonomic neuropathy, and organ dysfunction.

Light Chain-Associated Renal Disorders

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
proteinuria; nephrotic syndrome; renal insufficiency; hypertension

Root Cause:
Deposition of monoclonal light chains in kidney tissues, causing structural damage (e.g., light chain cast nephropathy, AL amyloidosis).

How it's Diagnosed: videos
Kidney biopsy with immunofluorescence, serum and urine electrophoresis, and free light chain assays.

Treatment:
Targeted chemotherapy to reduce light chain production and supportive renal care, including dialysis if needed.

Medications:
Bortezomib (proteasome inhibitor), lenalidomide (immunomodulatory drug), and dexamethasone (corticosteroid).

Prevalence: How common the health condition is within a specific population.
Rare; often associated with multiple myeloma or MGUS.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Plasma cell dyscrasias, genetic predisposition, and advanced age.

Prognosis: The expected outcome or course of the condition over time.
Guarded; progression to end-stage renal disease is common without effective treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, dialysis dependency, systemic amyloidosis.

Light-Chain Deposition Disease

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
fatigue; shortness of breath; edema (swelling in the legs); proteinuria; hypertension; progressive kidney failure

Root Cause:
Abnormal deposition of monoclonal light chains in tissues, typically the kidneys, leading to structural damage and organ dysfunction.

How it's Diagnosed: videos
Diagnosed through kidney biopsy revealing light-chain deposits, serum and urine protein electrophoresis, immunofixation electrophoresis, and free light chain assay. Additional tests may include imaging for organ involvement and blood work to evaluate renal function.

Treatment:
Treatment focuses on controlling the underlying plasma cell disorder using chemotherapy or immunotherapy and managing organ damage through supportive care like blood pressure control and dialysis if needed.

Medications:
Medications include bortezomib (a proteasome inhibitor), dexamethasone (a corticosteroid), and lenalidomide (an immunomodulatory agent). These target the abnormal plasma cells producing the light chains. Supportive medications may include antihypertensives and diuretics.

Prevalence: How common the health condition is within a specific population.
Rare condition, exact prevalence unknown but more common in association with plasma cell dyscrasias like multiple myeloma.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Plasma cell disorders (e.g., MGUS or multiple myeloma), family history of plasma cell dyscrasias, older age.

Prognosis: The expected outcome or course of the condition over time.
Prognosis varies depending on the extent of organ damage and response to treatment. Early detection and effective plasma cell suppression improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic kidney disease, nephrotic syndrome, organ failure (commonly renal), and progression to systemic amyloidosis or multiple myeloma.

Monoclonal Gammopathies of Undetermined Significance (MGUS)

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
typically asymptomatic; rarely, mild fatigue, bone pain, or neuropathy if associated conditions develop

Root Cause:
Presence of an abnormal monoclonal protein (M protein) produced by a small number of plasma cells in the absence of significant disease or organ damage.

How it's Diagnosed: videos
Detected through blood tests showing an M-protein spike in serum protein electrophoresis (SPEP), immunofixation, and a normal free light chain ratio. Absence of end-organ damage differentiates it from active plasma cell disorders.

Treatment:
No specific treatment required; regular monitoring of blood markers and organ function to detect progression.

Medications:
None typically prescribed; symptomatic conditions (if present) are managed with supportive care.

Prevalence: How common the health condition is within a specific population.
Affects about 3% of individuals over 50 years old and 5% over 70 years old.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, African-American ethnicity, and family history of plasma cell disorders.

Prognosis: The expected outcome or course of the condition over time.
Generally excellent; however, approximately 1% of cases per year progress to multiple myeloma, Waldenström macroglobulinemia, or amyloidosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Potential progression to malignancy (e.g., multiple myeloma), amyloidosis, or other plasma cell disorders.

Mu Heavy Chain Disease

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
fatigue; fever; enlarged lymph nodes; splenomegaly; anemia

Root Cause:
Abnormal production of truncated mu heavy chains by malignant B-cells, often associated with chronic lymphoproliferative disorders.

How it's Diagnosed: videos
Serum and urine protein electrophoresis reveal mu heavy chains. Diagnosis confirmed with immunofixation and bone marrow biopsy.

Treatment:
Chemotherapy targeting the underlying lymphoproliferative disorder, often using regimens for chronic lymphocytic leukemia (CLL).

Medications:
Medications include fludarabine (a purine analog), rituximab (a monoclonal antibody), and cyclophosphamide (an alkylating agent).

Prevalence: How common the health condition is within a specific population.
Extremely rare; only a few dozen cases reported in medical literature.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic lymphoproliferative disorders such as CLL or small lymphocytic lymphoma.

Prognosis: The expected outcome or course of the condition over time.
Highly variable; depends on the underlying lymphoproliferative disease and treatment response.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progressive organ dysfunction due to malignant proliferation, anemia, and infections.

Multiple Myeloma

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
bone pain; fatigue; frequent infections; anemia; hypercalcemia; renal impairment; pathological fractures

Root Cause:
Malignant proliferation of plasma cells in the bone marrow producing large amounts of monoclonal protein, leading to bone damage, immunosuppression, and organ dysfunction.

How it's Diagnosed: videos
Diagnosed via serum and urine electrophoresis (identifying M protein), bone marrow biopsy, imaging (e.g., X-rays, CT, or MRI), and evidence of end-organ damage (CRAB criteria).

Treatment:
Combination of chemotherapy, targeted therapy, immunotherapy, and autologous stem cell transplant.

Medications:
Commonly prescribed are bortezomib (proteasome inhibitor), lenalidomide (immunomodulator), dexamethasone (corticosteroid), and daratumumab (monoclonal antibody). Bisphosphonates like zoledronic acid are used to reduce bone complications.

Prevalence: How common the health condition is within a specific population.
Affects 4–5 per 100,000 people annually, more common in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, African-American ethnicity, family history, and MGUS.

Prognosis: The expected outcome or course of the condition over time.
Improved with modern therapies but still considered incurable; median survival varies from 5–10 years depending on stage and response to treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bone pain, fractures, kidney failure, hypercalcemia, anemia, and susceptibility to infections.

Solitary Plasmacytoma

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
localized bone pain; swelling; pathological fractures; or compression symptoms if in soft tissue

Root Cause:
A localized collection of clonal plasma cells in bone or soft tissue without systemic disease.

How it's Diagnosed: videos
Identified through imaging (e.g., MRI, CT) and biopsy confirming plasma cell infiltration. Normal bone marrow and absence of systemic signs of myeloma.

Treatment:
Localized radiotherapy or surgical excision. Monitoring for progression to multiple myeloma.

Medications:
None typically required unless progression occurs; supportive medications for pain management may include analgesics or bisphosphonates.

Prevalence: How common the health condition is within a specific population.
Rare; accounts for about 5% of all plasma cell disorders.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Similar to those of multiple myeloma.

Prognosis: The expected outcome or course of the condition over time.
Generally good with localized treatment; 10-year progression-free survival rates are around 50–70%.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progression to multiple myeloma, bone fractures, or soft tissue dysfunction.

Waldenström Macroglobulinemia

Specialty: Hematology

Category: Plasma Cell Disorders

Symptoms:
fatigue; weakness; anemia; enlarged lymph nodes; hyperviscosity syndrome; bleeding tendencies; night sweats

Root Cause:
A type of lymphoplasmacytic lymphoma characterized by excess production of IgM monoclonal protein, leading to hyperviscosity and other systemic issues.

How it's Diagnosed: videos
Diagnosis involves serum protein electrophoresis, immunofixation, bone marrow biopsy, and clinical evaluation for symptoms of hyperviscosity or organ involvement.

Treatment:
Plasmapheresis for hyperviscosity, chemotherapy, immunotherapy, and targeted therapies.

Medications:
Common options include rituximab (monoclonal antibody), ibrutinib (Bruton’s tyrosine kinase inhibitor), and bendamustine (alkylating agent).

Prevalence: How common the health condition is within a specific population.
Rare, with an incidence of about 3 per million annually. More common in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, family history, and MGUS.

Prognosis: The expected outcome or course of the condition over time.
Slowly progressive but treatable; median survival ranges from 5–10 years, depending on response to therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hyperviscosity syndrome, neuropathy, bleeding, infections, and secondary amyloidosis.

Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; pale or yellowish skin; shortness of breath; dizziness; cold hands and feet; irregular heartbeat; chest pain

Root Cause:
A decrease in the number of red blood cells or hemoglobin, leading to reduced oxygen delivery to tissues. Causes include iron deficiency, vitamin deficiencies (B12 or folate), chronic diseases, and blood loss.

How it's Diagnosed: videos
Blood tests, including a complete blood count (CBC) to measure hemoglobin, hematocrit, and red blood cell indices. Additional tests may include ferritin, vitamin B12, folate levels, and reticulocyte count.

Treatment:
Treatment depends on the underlying cause. Common treatments include dietary supplements (iron, B12, folate), blood transfusions, and treating underlying chronic diseases or conditions.

Medications:
Iron supplements (e.g., ferrous sulfate, ferrous gluconate), vitamin B12 injections or oral supplements, folic acid supplements, erythropoiesis-stimulating agents (e.g., epoetin alfa or darbepoetin alfa) for anemia related to chronic disease or kidney failure.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1.62 billion people globally, with higher prevalence in women, children, and individuals in developing countries.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Poor diet, chronic illnesses (e.g., kidney disease, inflammatory conditions), heavy menstrual bleeding, pregnancy, gastrointestinal bleeding, and genetic conditions (e.g., sickle cell anemia).

Prognosis: The expected outcome or course of the condition over time.
Good prognosis with appropriate treatment; prognosis depends on underlying cause. Untreated, it can lead to significant complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart problems (e.g., left ventricular hypertrophy, heart failure), delayed growth in children, and reduced ability to perform physical activities.

Anemia in Elderly Persons

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
weakness; fatigue; diminished physical performance; shortness of breath; increased susceptibility to falls; cognitive decline

Root Cause:
Often related to nutritional deficiencies, chronic inflammation, or age-related decline in erythropoiesis.

How it's Diagnosed: videos
Complete blood count (CBC), ferritin levels, serum iron, total iron-binding capacity (TIBC), and tests for vitamin B12 and folate levels. Additional testing may investigate chronic diseases.

Treatment:
Address underlying causes, including dietary deficiencies or chronic diseases. Erythropoiesis-stimulating agents may be used in some cases.

Medications:
Oral or intravenous iron, vitamin B12 injections, folic acid, and erythropoietin-stimulating agents such as epoetin alfa.

Prevalence: How common the health condition is within a specific population.
Common in elderly populations, affecting approximately 10% of people over 65 years.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced age, chronic diseases (e.g., kidney disease, inflammatory disorders), malnutrition, and medications interfering with absorption of nutrients.

Prognosis: The expected outcome or course of the condition over time.
Dependent on identifying and managing the cause. Nutritional deficiencies often respond well to treatment, while chronic disease-associated anemia may require long-term management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased mortality, cardiovascular events, frailty, and reduced quality of life.

Anemia of Chronic Disease and Kidney Failure

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; shortness of breath; pale skin; reduced exercise tolerance; dizziness; cold hands and feet

Root Cause:
Decreased red blood cell production due to chronic inflammation or reduced erythropoietin production by the kidneys. Additional factors include iron-restricted erythropoiesis and shortened red blood cell lifespan.

How it's Diagnosed: videos
Complete blood count (CBC) showing low hemoglobin and hematocrit, serum iron and ferritin levels, transferrin saturation, erythropoietin levels, and evaluation of kidney function through creatinine and glomerular filtration rate (GFR).

Treatment:
Management of the underlying chronic condition (e.g., controlling inflammation or treating kidney disease) and replenishment of iron stores and erythropoiesis support.

Medications:
Iron supplementation (oral or intravenous), erythropoiesis-stimulating agents (e.g., epoetin alfa, darbepoetin alfa), and vitamin B12 or folate if deficiencies exist.

Prevalence: How common the health condition is within a specific population.
Anemia of chronic disease is the second most common type of anemia worldwide. It is highly prevalent in patients with chronic kidney disease (CKD), affecting up to 90% of individuals with end-stage kidney disease.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic illnesses (e.g., kidney disease, autoimmune diseases, cancer), inflammation, diabetes, hypertension, and older age.

Prognosis: The expected outcome or course of the condition over time.
The prognosis depends on the severity of the underlying condition and the response to treatment. With appropriate management, anemia can be controlled, improving quality of life and reducing complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Left ventricular hypertrophy, heart failure, reduced quality of life, increased hospitalization rates, and higher mortality in severe cases of untreated anemia.

Aplastic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; shortness of breath; frequent infections; unexplained or easy bruising; prolonged bleeding from cuts; pale skin; dizziness; headache; rapid or irregular heartbeat

Root Cause:
A rare condition in which the bone marrow fails to produce sufficient red blood cells, white blood cells, and platelets. Causes include autoimmune damage, exposure to toxic chemicals, certain medications, radiation, viral infections, or inherited conditions.

How it's Diagnosed: videos
Blood tests showing pancytopenia (low levels of all blood cells) and reticulocytopenia (low reticulocyte count). Bone marrow biopsy confirms hypocellular (empty) or fatty bone marrow.

Treatment:
Treatment depends on severity. Mild cases may involve supportive care, while severe cases often require immunosuppressive therapy, hematopoietic stem cell transplantation (bone marrow transplant), or blood transfusions.

Medications:
Immunosuppressants (e.g., antithymocyte globulin [ATG], cyclosporine , corticosteroids), hematopoietic growth factors (e.g., filgrastim or sargramostim ), androgens (e.g., danazol ) in certain cases, and antibiotics or antifungals to prevent or treat infections.

Prevalence: How common the health condition is within a specific population.
Rare, affecting approximately 1-2 individuals per million people annually worldwide, with higher incidence in Asia.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Exposure to toxic chemicals (e.g., benzene), radiation or chemotherapy, certain medications (e.g., chloramphenicol), viral infections (e.g., hepatitis, Epstein-Barr virus), autoimmune diseases, and genetic predisposition (e.g., Fanconi anemia).

Prognosis: The expected outcome or course of the condition over time.
With treatment, prognosis varies. Bone marrow transplantation offers a potential cure for eligible patients. Immunosuppressive therapy is effective for many, though relapses can occur. Without treatment, severe aplastic anemia is often fatal.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Life-threatening infections, severe bleeding, iron overload from repeated transfusions, progression to myelodysplastic syndrome or leukemia, and organ damage from iron overload.

Argyria

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
permanent bluish-gray discoloration of the skin and mucous membranes; discoloration more prominent in areas exposed to sunlight; nail discoloration; eye sclera discoloration

Root Cause:
Deposition of silver particles in the skin and other tissues due to chronic exposure or excessive intake of silver compounds. Silver reacts with light, causing a photochemical reaction that leads to the characteristic discoloration.

How it's Diagnosed: videos
Diagnosis is based on clinical appearance (bluish-gray discoloration), history of silver exposure or ingestion, and biopsy of affected tissue showing silver deposition.

Treatment:
There is no effective treatment to reverse the discoloration. Preventative measures include avoiding excessive exposure to silver-containing substances. Cosmetic treatments, such as laser therapy, may reduce discoloration in some cases.

Medications:
There are no specific medications to treat argyria. Management focuses on preventing further exposure to silver and addressing any secondary issues.

Prevalence: How common the health condition is within a specific population.
Extremely rare; occurs in individuals with prolonged or excessive exposure to silver-containing products (e.g., industrial exposure, alternative medicine use).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic use of colloidal silver products, occupational exposure to silver compounds, and ingestion of silver salts.

Prognosis: The expected outcome or course of the condition over time.
While the condition is not life-threatening, the discoloration is permanent and can lead to psychological distress or social stigma. Prognosis improves with prevention of further silver exposure.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Psychological impact due to cosmetic appearance, social isolation, and rarely, deposition of silver in internal organs, leading to organ dysfunction in extreme cases.

Beta Thalassemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; pale or yellowish skin; dark urine; slow growth; bone deformities; enlarged spleen

Root Cause:
A genetic mutation reduces the production of beta-globin chains in hemoglobin, leading to ineffective red blood cell production and anemia.

How it's Diagnosed: videos
Complete blood count (CBC), hemoglobin electrophoresis, genetic testing, and peripheral blood smear.

Treatment:
Regular blood transfusions, iron chelation therapy, bone marrow or stem cell transplant, and supportive care.

Medications:
Iron chelators like deferasirox or deferoxamine to manage iron overload from transfusions. Folic acid supplements may also be prescribed.

Prevalence: How common the health condition is within a specific population.
More common in Mediterranean, Middle Eastern, and Southeast Asian populations; worldwide incidence is around 1 in 100,000.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of thalassemia, carrier status for beta-thalassemia mutations, consanguineous marriage.

Prognosis: The expected outcome or course of the condition over time.
Life expectancy depends on severity; regular treatment improves quality of life but severe cases require lifelong care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Iron overload, heart disease, liver damage, endocrine dysfunction, and bone abnormalities.

Bone Marrow Failure

Specialty: Hematology

Category: Bone Marrow and Stem Cell Disorders

Sub-category: Aplastic Anemia

Symptoms:
fatigue; easy bruising; frequent infections; shortness of breath; pallor; unexplained bleeding; slow wound healing

Root Cause:
Dysfunction or destruction of hematopoietic stem cells leading to insufficient production of blood cells (red, white, and platelets).

How it's Diagnosed: videos
CBC with low blood counts across all cell lines, bone marrow biopsy, and cytogenetic testing.

Treatment:
Immunosuppressive therapy (e.g., antithymocyte globulin and cyclosporine), bone marrow transplant, growth factors (e.g., erythropoietin), and transfusions.

Medications:
Immunosuppressants like cyclosporine , antithymocyte globulin , and corticosteroids. Growth factors include filgrastim (G-CSF).

Prevalence: How common the health condition is within a specific population.
Rare; incidence is approximately 2–3 cases per million people annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases, chemotherapy, radiation exposure, viral infections (e.g., hepatitis), and toxic chemical exposure.

Prognosis: The expected outcome or course of the condition over time.
Varies; treatable with transplant in younger patients, but chronic cases may require ongoing care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Risk of infections, bleeding, secondary cancers, and transfusion-related iron overload.

Cold Agglutinin Disease

Specialty: Hematology

Category: Immune Hemolytic Disorders

Sub-category: Autoimmune Hemolytic Anemia

Symptoms:
fatigue; dark urine; jaundice; cold-induced acrocyanosis; pain in extremities; anemia-related weakness

Root Cause:
Autoantibodies bind to red blood cells at low temperatures, causing hemolysis.

How it's Diagnosed: videos
CBC, direct antiglobulin test (Coombs test), cold agglutinin titer, and peripheral blood smear.

Treatment:
Avoiding cold exposure, immunosuppressive therapy, plasmapheresis, and rituximab.

Medications:
Rituximab (monoclonal antibody), corticosteroids, and in some cases, immunosuppressants like cyclophosphamide .

Prevalence: How common the health condition is within a specific population.
Rare; incidence is estimated to be 1 case per million annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, underlying infections (e.g., mycoplasma pneumonia), or lymphoproliferative disorders.

Prognosis: The expected outcome or course of the condition over time.
Good with management; severe hemolysis requires lifelong care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, thromboembolism, and organ damage due to hemolysis.

Folate Deficiency

Specialty: Hematology

Category: Nutritional Deficiencies and Disorders

Sub-category: Macrocytic Anemia

Symptoms:
fatigue; shortness of breath; pale skin; irritability; weakness; tongue swelling or soreness

Root Cause:
Insufficient folic acid intake or absorption disrupts DNA synthesis, particularly affecting red blood cell production.

How it's Diagnosed: videos
CBC with macrocytic anemia, serum folate levels, and homocysteine levels.

Treatment:
Dietary supplementation with folic acid and addressing underlying causes.

Medications:
Folic acid supplements (1 mg daily) and vitamin B12 supplements if a deficiency is concurrent.

Prevalence: How common the health condition is within a specific population.
Common in areas with poor nutrition; incidence is higher in pregnant women and alcoholics.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Alcoholism, pregnancy, malabsorption syndromes, and certain medications (e.g., methotrexate).

Prognosis: The expected outcome or course of the condition over time.
Excellent with treatment; anemia resolves with supplementation.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, neural tube defects in pregnancy, and cardiovascular risks from elevated homocysteine levels.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

Specialty: Hematology

Category: Red Blood Cells and Disorders

Sub-category: Hemolytic Anemia

Symptoms:
fatigue; dark urine; jaundice; pallor; shortness of breath; rapid heart rate

Root Cause:
Deficiency in the G6PD enzyme makes red blood cells vulnerable to oxidative stress, leading to hemolysis.

How it's Diagnosed: videos
G6PD enzyme activity assay, CBC, and peripheral blood smear.

Treatment:
Avoidance of triggers (e.g., certain drugs, fava beans, infections), supportive care during hemolytic episodes, and blood transfusions if severe.

Medications:
No specific medications; management focuses on avoiding oxidative stress.

Prevalence: How common the health condition is within a specific population.
Common in malaria-endemic regions, affecting approximately 400 million people globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Male sex (X-linked condition), African, Mediterranean, or Asian ancestry.

Prognosis: The expected outcome or course of the condition over time.
Generally good with trigger avoidance; hemolytic episodes are self-limiting.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Acute hemolysis, neonatal jaundice, and potential kidney damage during severe episodes.

Hemoglobin C Disease

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; mild anemia; jaundice; splenomegaly; episodic pain crises in severe cases

Root Cause:
A genetic mutation in the HBB gene leads to the production of hemoglobin C, which causes red blood cells to become more rigid and prone to destruction.

How it's Diagnosed: videos
Hemoglobin electrophoresis, complete blood count (CBC), peripheral blood smear, and genetic testing for the HBB gene mutation.

Treatment:
Treatment is often supportive, focusing on managing anemia and preventing complications. Severe cases may require splenectomy or blood transfusions during crises.

Medications:
Folic acid supplements to support red blood cell production; no specific pharmacological treatment for the condition itself. Pain management medications may be prescribed for crises.

Prevalence: How common the health condition is within a specific population.
Predominantly affects individuals of African or Mediterranean descent, with a carrier rate of approximately 2-3% in African populations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Having parents who are carriers of the hemoglobin C trait.

Prognosis: The expected outcome or course of the condition over time.
Generally good; most individuals have mild symptoms and live normal lifespans, but severe cases may experience more complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Splenomegaly, gallstones, increased risk of infections post-splenectomy, and rare severe hemolytic anemia crises.

Hemoglobinopathy Retinopathy

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
visual disturbances; blurry vision; floaters; peripheral vision loss

Root Cause:
Abnormal hemoglobin leads to occlusion of retinal blood vessels, ischemia, and subsequent retinal damage.

How it's Diagnosed: videos
Fundoscopic examination, fluorescein angiography, optical coherence tomography (OCT), and hemoglobin electrophoresis to identify the underlying hemoglobinopathy.

Treatment:
Treatment involves managing the underlying hemoglobinopathy, laser photocoagulation for neovascularization, and anti-VEGF injections for retinal edema.

Medications:
Anti-VEGF agents (e.g., ranibizumab , aflibercept ) to reduce retinal edema; folic acid and hydroxyurea for underlying hemoglobinopathy management.

Prevalence: How common the health condition is within a specific population.
Associated with hemoglobinopathies like sickle cell disease; prevalence varies based on hemoglobinopathy distribution.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Underlying hemoglobinopathies (e.g., sickle cell disease, hemoglobin SC disease), poorly managed systemic symptoms.

Prognosis: The expected outcome or course of the condition over time.
Variable; early diagnosis and treatment improve outcomes, but untreated retinopathy can lead to significant vision loss.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Retinal detachment, vitreous hemorrhage, permanent vision loss.

Hemolytic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; jaundice; pallor; dark urine; splenomegaly; shortness of breath

Root Cause:
Premature destruction of red blood cells leads to anemia and increased production of bilirubin. Causes include autoimmune reactions, genetic disorders, infections, and medications.

How it's Diagnosed: videos
Complete blood count (CBC), reticulocyte count, bilirubin levels, Coombs test, and peripheral blood smear.

Treatment:
Treatment depends on the cause and may include corticosteroids for autoimmune causes, plasmapheresis, or blood transfusions. Splenectomy may be necessary in chronic cases.

Medications:
Corticosteroids (e.g., prednisone ) for autoimmune hemolytic anemia; rituximab for refractory cases; folic acid to support red blood cell production.

Prevalence: How common the health condition is within a specific population.
Varies widely depending on the cause; autoimmune hemolytic anemia affects 1-3 per 100,000 annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune disorders, infections, hereditary conditions (e.g., G6PD deficiency, sickle cell disease), and certain medications.

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying cause; manageable with appropriate treatment in most cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, heart failure, gallstones, and increased susceptibility to infections.

Iron Deficiency Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; pallor; shortness of breath; brittle nails; pica; cold intolerance

Root Cause:
Insufficient iron levels lead to reduced hemoglobin production, impairing oxygen delivery to tissues.

How it's Diagnosed: videos
Complete blood count (CBC), serum ferritin, serum iron, total iron-binding capacity (TIBC), and transferrin saturation.

Treatment:
Iron supplementation (oral or intravenous), dietary modifications, and addressing the underlying cause of iron loss.

Medications:
Ferrous sulfate (oral iron supplement), ferric carboxymaltose (IV iron for severe cases), erythropoiesis-stimulating agents in chronic diseases.

Prevalence: How common the health condition is within a specific population.
The most common nutritional deficiency worldwide, affecting up to 25% of the global population.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Poor dietary intake, chronic blood loss (e.g., heavy menstruation, gastrointestinal bleeding), pregnancy, and malabsorption disorders.

Prognosis: The expected outcome or course of the condition over time.
Excellent with appropriate treatment; symptoms resolve as iron levels normalize.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, delayed growth in children, heart failure, and increased susceptibility to infections.

Macrocytosis

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; shortness of breath; pallor; neurological symptoms in cases of vitamin b12 deficiency

Root Cause:
Enlargement of red blood cells due to vitamin B12 or folate deficiency, liver disease, or bone marrow disorders.

How it's Diagnosed: videos
Complete blood count (CBC), peripheral blood smear, vitamin B12 and folate levels, liver function tests, and bone marrow biopsy if needed.

Treatment:
Addressing the underlying cause, such as supplementation for vitamin B12 or folate deficiency or treatment of liver disease.

Medications:
Vitamin B12 injections or oral supplementation; folic acid supplements; hydroxyurea in certain bone marrow disorders.

Prevalence: How common the health condition is within a specific population.
Common, particularly in older adults or individuals with dietary deficiencies or chronic illnesses.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Vitamin B12 or folate deficiency, alcohol use, liver disease, hypothyroidism, and bone marrow disorders.

Prognosis: The expected outcome or course of the condition over time.
Good with appropriate treatment; reversible in most cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, neurological deficits in vitamin B12 deficiency, and progression to bone marrow disorders.

Megaloblastic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; pale or yellowish skin; shortness of breath; weakness; irritability; numbness or tingling in hands and feet; difficulty concentrating; glossitis (swollen, red tongue); loss of appetite

Root Cause:
A defect in DNA synthesis caused by deficiencies in vitamin B12 or folate, leading to the production of abnormally large and immature red blood cells (megaloblasts) in the bone marrow.

How it's Diagnosed: videos
Blood tests showing macrocytosis (large red blood cells), hypersegmented neutrophils, low vitamin B12 or folate levels, elevated homocysteine, and possibly elevated methylmalonic acid (specific for B12 deficiency). A bone marrow biopsy may confirm megaloblastic changes.

Treatment:
Treatment depends on the underlying deficiency. Supplementation of vitamin B12 (oral or intramuscular injections) or folate, along with dietary modifications to include foods rich in these nutrients.

Medications:
Vitamin B12 supplements (cyanocobalamin or hydroxocobalamin ) — classified as vitamin therapy. Folic acid supplements — also classified as vitamin therapy. Combination therapy with both vitamin B12 and folic acid if the deficiency is unclear.

Prevalence: How common the health condition is within a specific population.
Varies by region; more common in areas with dietary deficiencies or high rates of malabsorption disorders (e.g., pernicious anemia). Common among older adults and populations with limited access to fortified foods.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
dietary deficiency of vitamin B12 or folate; alcoholism; pregnancy; pernicious anemia; gastrointestinal surgeries (e.g., gastrectomy); malabsorption conditions (e.g., celiac disease, Crohn's disease); medications interfering with vitamin absorption (e.g., methotrexate, metformin, proton pump inhibitors)

Prognosis: The expected outcome or course of the condition over time.
With appropriate supplementation and treatment of the underlying cause, symptoms typically resolve, and prognosis is excellent. Untreated cases can lead to irreversible neurological damage in vitamin B12 deficiency.

Complications: Additional problems or conditions that may arise as a result of the original condition.
irreversible neurological damage; infertility; cardiovascular risks due to elevated homocysteine levels; increased susceptibility to infections; peripheral neuropathy; cognitive decline or memory issues

Methemoglobinemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
cyanosis (bluish skin, especially lips and fingers); shortness of breath; fatigue; confusion; headache; dizziness; tachycardia; loss of consciousness in severe cases

Root Cause:
Elevated levels of methemoglobin (an oxidized form of hemoglobin that cannot bind oxygen effectively) in the blood, leading to reduced oxygen delivery to tissues.

How it's Diagnosed: videos
Arterial blood gas analysis showing low oxygen saturation despite normal oxygen levels, co-oximetry detecting elevated methemoglobin levels, and a chocolate-brown appearance of arterial blood.

Treatment:
Treatment depends on severity. Methylene blue (an antidote) is administered intravenously in severe cases. Ascorbic acid may also help in mild cases. Removal of the causative agent (e.g., drugs or toxins) is crucial.

Medications:
Methylene blue — a reducing agent to convert methemoglobin back to functional hemoglobin. Ascorbic acid (Vitamin C) — classified as an antioxidant, used in mild chronic cases.

Prevalence: How common the health condition is within a specific population.
Rare; often seen in people exposed to oxidizing agents (e.g., nitrates, dapsone, or benzocaine). Can also be congenital due to genetic mutations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
exposure to oxidizing drugs or chemicals; genetic predisposition (e.g., cytochrome b5 reductase deficiency); infants under 6 months (due to immature enzyme systems); industrial exposure to nitrates

Prognosis: The expected outcome or course of the condition over time.
Prognosis is excellent with prompt treatment. Chronic or untreated cases may result in tissue hypoxia and severe complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
hypoxia; seizures; cardiovascular collapse; death in severe untreated cases

Myelophthisic Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; pallor; weakness; shortness of breath; easy bruising; frequent infections; bone pain in some cases

Root Cause:
Bone marrow failure caused by infiltration of abnormal cells or substances (e.g., cancer cells, fibrosis, granulomas), displacing normal hematopoietic tissue.

How it's Diagnosed: videos
Blood smear showing immature blood cells (leukoerythroblastosis), anemia, and abnormal red cell shapes. Bone marrow biopsy confirms marrow infiltration.

Treatment:
Treatment depends on the underlying cause (e.g., chemotherapy for cancer, corticosteroids for fibrosis, or infection management). Supportive measures include transfusions.

Medications:
Specific to the underlying cause (e.g., chemotherapy for malignancies, corticosteroids for granulomatous diseases). Erythropoietin-stimulating agents to support red blood cell production in some cases.

Prevalence: How common the health condition is within a specific population.
Rare, primarily associated with malignancies (e.g., metastatic cancer, leukemia, lymphoma) or chronic infections (e.g., tuberculosis).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
malignancies; chronic granulomatous infections; fibrotic disorders; radiation exposure; certain genetic predispositions

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying condition. Early diagnosis and treatment of the causative factor can improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
severe anemia; organ failure due to infiltration; increased susceptibility to infections; bleeding disorders

Paroxysmal Nocturnal Hemoglobinuria (PNH)

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
dark-colored urine (often in the morning); fatigue; weakness; shortness of breath; abdominal pain; difficulty swallowing; blood clots; jaundice

Root Cause:
A rare acquired mutation in the PIGA gene, leading to defective complement regulation on red blood cells and resulting in hemolysis (destruction of red blood cells).

How it's Diagnosed: videos
Flow cytometry detecting absent GPI-anchored proteins (e.g., CD55, CD59) on blood cells, lactate dehydrogenase (LDH) elevation, and hemoglobinuria.

Treatment:
Eculizumab (a complement inhibitor) is the main treatment. Supportive therapies include blood transfusions, iron supplementation, and anticoagulation for thrombosis.

Medications:
Eculizumab (Soliris ) — classified as a complement inhibitor, reduces hemolysis and thrombosis risk. Ravulizumab — a longer-acting complement inhibitor. Anticoagulants — used to prevent or treat thrombosis.

Prevalence: How common the health condition is within a specific population.
Rare; affects 1-2 per million people annually. More common in young adults and associated with aplastic anemia or bone marrow failure syndromes.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
genetic predisposition; association with aplastic anemia; exposure to certain toxins; immune dysregulation

Prognosis: The expected outcome or course of the condition over time.
Improved significantly with complement inhibitors; however, untreated cases have a high risk of thrombosis and early mortality.

Complications: Additional problems or conditions that may arise as a result of the original condition.
thrombosis; kidney failure; chronic hemolysis; iron overload from transfusions; pulmonary hypertension

Pernicious Anemia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; pale or jaundiced skin; shortness of breath; numbness or tingling in the hands and feet; difficulty walking; memory problems; mood changes; glossitis (sore, red tongue); loss of appetite

Root Cause:
Autoimmune destruction of gastric parietal cells leads to a lack of intrinsic factor, which is necessary for vitamin B12 absorption, resulting in impaired red blood cell production.

How it's Diagnosed: videos
Complete blood count (CBC), vitamin B12 levels, methylmalonic acid (MMA) levels, intrinsic factor antibody test, and bone marrow biopsy (if needed).

Treatment:
Vitamin B12 supplementation through injections or high-dose oral supplements, along with management of any neurological symptoms or complications.

Medications:
Vitamin B12 (cyanocobalamin or hydroxocobalamin ), typically administered intramuscularly or subcutaneously. These medications are classified as vitamins and nutritional supplements.

Prevalence: How common the health condition is within a specific population.
Common in individuals over 60 years old; higher prevalence in people of Northern European descent and those with autoimmune conditions.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune conditions (e.g., Hashimoto's thyroiditis, type 1 diabetes), family history, vegetarian or vegan diets (due to low dietary B12), and gastrointestinal surgeries or disorders (e.g., gastric bypass, chronic gastritis).

Prognosis: The expected outcome or course of the condition over time.
Excellent with timely treatment; symptoms and hematologic abnormalities often resolve with B12 replacement therapy. Delayed treatment may lead to irreversible neurological damage.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Neurological symptoms (e.g., peripheral neuropathy, cognitive impairment), increased risk of gastric cancer, and severe anemia.

Pure Red Cell Aplasia (PRCA)

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
severe fatigue; pallor; shortness of breath; dizziness; tachycardia (rapid heartbeat); headaches

Root Cause:
Selective suppression or destruction of red blood cell precursors in the bone marrow, often due to autoimmune mechanisms, viral infections (e.g., parvovirus B19), or medications.

How it's Diagnosed: videos
Complete blood count (CBC) showing severe anemia with low reticulocyte count, bone marrow biopsy revealing absence or reduction of red blood cell precursors, and testing for associated infections or autoimmune markers.

Treatment:
Treated based on the underlying cause and includes immunosuppressive therapy (e.g., corticosteroids, cyclosporine, or rituximab), antiviral medications for parvovirus B19 infection, and in some cases, plasmapheresis or supportive care with red blood cell transfusions.

Medications:
Corticosteroids (e.g., prednisone , dexamethasone ), immunosuppressants (e.g., cyclosporine , tacrolimus ), and intravenous immunoglobulin (IVIG) for autoimmune causes. These medications are classified as immunosuppressants or anti-inflammatory agents.

Prevalence: How common the health condition is within a specific population.
Rare, with an incidence of 1–5 cases per million people annually; can occur in any age group.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases (e.g., rheumatoid arthritis), exposure to certain medications (e.g., isoniazid, phenytoin), infections (e.g., parvovirus B19, Epstein-Barr virus), and hematologic malignancies (e.g., leukemia).

Prognosis: The expected outcome or course of the condition over time.
Variable; may resolve spontaneously if caused by infection or medication. Chronic or idiopathic cases may require long-term immunosuppressive therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia requiring transfusions, iron overload from chronic transfusions, and progression to aplastic anemia or other bone marrow disorders.

Sickle Cell Disease (SCD)

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
chronic anemia; pain crises; fatigue; swelling in hands and feet; delayed growth; frequent infections; jaundice; vision problems

Root Cause:
Genetic mutation in the HBB gene causes production of abnormal hemoglobin (HbS), leading to red blood cells that sickle under low oxygen conditions, resulting in hemolysis and vascular occlusion.

How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing, blood smear showing sickled cells, and complete blood count (CBC).

Treatment:
Hydroxyurea to reduce pain crises and transfusion frequency, blood transfusions, stem cell transplant (potential cure in select cases), and supportive care.

Medications:
Hydroxyurea (increases fetal hemoglobin production), L-glutamine (reduces oxidative stress), voxelotor (inhibits HbS polymerization), and crizanlizumab (reduces vaso-occlusive crises).

Prevalence: How common the health condition is within a specific population.
Affects millions globally, particularly individuals of African, Mediterranean, Middle Eastern, and Indian descent. In the U.S., it affects approximately 1 in 365 African-American births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of SCD, being a carrier (sickle cell trait) with a partner who is also a carrier.

Prognosis: The expected outcome or course of the condition over time.
With modern treatments, life expectancy has improved, but complications may limit quality of life. Stem cell transplant offers a potential cure in select cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, acute chest syndrome, organ damage (kidney, liver, spleen), chronic pain, and increased risk of infections.

Sideroblastic Anemias

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; weakness; pallor; shortness of breath; dizziness; irritability; enlarged spleen or liver

Root Cause:
Defective hemoglobin synthesis due to impaired incorporation of iron into heme, resulting in iron buildup in mitochondria of erythroblasts (ringed sideroblasts in the bone marrow).

How it's Diagnosed: videos
Bone marrow biopsy showing ringed sideroblasts, complete blood count (CBC) with anemia, peripheral blood smear, and iron studies (elevated serum iron and ferritin). Genetic testing for hereditary causes.

Treatment:
reated by addressing the underlying cause, with options including pyridoxine (vitamin B6) supplementation for hereditary forms, management of contributing factors like alcohol or toxins, iron chelation therapy for iron overload, and transfusions for severe anemia.

Medications:
Pyridoxine (vitamin B6) for hereditary forms, iron chelators such as deferoxamine , deferiprone , or deferasirox to manage iron overload.

Prevalence: How common the health condition is within a specific population.
Rare; hereditary forms are often seen in childhood, while acquired forms are more common in adults, especially in myelodysplastic syndromes.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., ALAS2 gene), alcohol use, lead poisoning, certain medications (e.g., isoniazid, chloramphenicol), and myelodysplastic syndromes.

Prognosis: The expected outcome or course of the condition over time.
Variable; hereditary forms respond well to pyridoxine, while acquired forms depend on the underlying cause. Iron overload can lead to complications without proper management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, organ damage from iron overload (e.g., heart, liver, endocrine glands), and progression to myelodysplastic syndrome or acute myeloid leukemia in some cases.

Thalassemia Intermedia

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
mild to moderate anemia; fatigue; weakness; delayed growth; bone deformities; jaundice; enlarged spleen

Root Cause:
Reduced production of either alpha or beta globin chains in hemoglobin, leading to ineffective erythropoiesis and hemolysis.

How it's Diagnosed: videos
Hemoglobin electrophoresis, genetic testing, complete blood count (CBC) showing microcytic hypochromic anemia, and blood smear.

Treatment:
Blood transfusions during stress or pregnancy, folic acid supplementation, management of iron overload with chelation therapy, and splenectomy in severe cases.

Medications:
Folic acid supplements, iron chelators (e.g., deferoxamine , deferiprone , deferasirox ). Hydroxyurea may be used in select cases to increase fetal hemoglobin.

Prevalence: How common the health condition is within a specific population.
Varies by region; more common in Mediterranean, Middle Eastern, Southeast Asian, and African populations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of thalassemia, being a carrier of the beta or alpha thalassemia trait.

Prognosis: The expected outcome or course of the condition over time.
Better than thalassemia major but may require lifelong management. Risk of complications increases without proper treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Iron overload from transfusions, bone deformities, growth delays, and increased risk of thrombosis.

Transfusion-Induced Iron Overload

Specialty: Hematology

Category: Red Blood Cells and Disorders

Symptoms:
fatigue; joint pain; darkened skin; abdominal pain; heart palpitations; shortness of breath

Root Cause:
Repeated blood transfusions lead to excessive iron accumulation in tissues, as the body cannot excrete the excess iron.

How it's Diagnosed: videos
Serum ferritin levels, transferrin saturation, liver MRI to assess iron deposition, and liver biopsy in certain cases.

Treatment:
Iron chelation therapy to remove excess iron and minimize organ damage. Lifestyle modifications, such as reducing dietary iron intake.

Medications:
Deferoxamine (parenteral), deferasirox (oral), and deferiprone (oral). These are classified as iron chelators.

Prevalence: How common the health condition is within a specific population.
Common in patients receiving chronic transfusions for conditions such as thalassemia, sickle cell disease, and myelodysplastic syndromes.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Frequent blood transfusions, hereditary hemochromatosis, ineffective erythropoiesis.

Prognosis: The expected outcome or course of the condition over time.
Good with early detection and treatment, but untreated cases can lead to significant organ damage.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Organ damage (heart, liver, pancreas), diabetes, cirrhosis, and heart failure.

Valsalva Retinopathy

Specialty: Hematology

Category: None

Symptoms:
sudden vision loss; floaters; visual distortions; red tint in vision

Root Cause:
Sudden increase in intra-abdominal or intrathoracic pressure (e.g., from coughing, vomiting, or heavy lifting) causes retinal capillary rupture and vitreous hemorrhage.

How it's Diagnosed: videos
Fundoscopic examination, optical coherence tomography (OCT), and fluorescein angiography to identify retinal hemorrhages.

Treatment:
Usually self-limiting; observation is sufficient in most cases. Persistent cases may require laser photocoagulation or vitrectomy.

Medications:
Not typically required. In cases of associated inflammation, corticosteroid eye drops may be used.

Prevalence: How common the health condition is within a specific population.
Rare but can occur in any age group, more commonly seen in physically active individuals or during activities that cause a Valsalva maneuver.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Activities or conditions causing sudden pressure changes, such as heavy lifting, vomiting, coughing, or sneezing.

Prognosis: The expected outcome or course of the condition over time.
Excellent; most cases resolve without intervention. Severe cases may require surgical management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Persistent vitreous hemorrhage, retinal detachment, and vision loss in untreated severe cases.

Acute Promyelocytic Leukemia (APL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
bleeding and bruising; shortness of breath; chest pain; fever; fatigue; low platelet counts; nosebleeds or bleeding gums; blood clots in veins or arteries

Root Cause:
Blocked maturation of promyelocytes due to a specific genetic translocation (t(15;17)), leading to accumulation in the bone marrow.

How it's Diagnosed: videos
Blood tests (low platelets, high WBC counts, and DIC markers), bone marrow biopsy, genetic testing for PML-RARA fusion gene.

Treatment:
Differentiation therapy with all-trans retinoic acid (ATRA) combined with arsenic trioxide (ATO) or chemotherapy.

Medications:
All-trans retinoic acid (ATRA) (vitamin A derivative ), arsenic trioxide (ATO), and occasionally anthracyclines (e.g., daunorubicin ).

Prevalence: How common the health condition is within a specific population.
A rare subtype of AML, accounting for about 10% of AML cases.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predispositions, exposure to radiation, and prior chemotherapy.

Prognosis: The expected outcome or course of the condition over time.
Excellent with prompt treatment; 5-year survival rates exceed 80%.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Disseminated intravascular coagulation (DIC), relapse, and differentiation syndrome.

AIDS-Related Lymphomas

Specialty: Hematology

Category: Immune System Disorders

Symptoms:
swollen lymph nodes; night sweats; fever; weight loss; fatigue; abdominal pain; chest pain or shortness of breath

Root Cause:
Immunosuppression from HIV/AIDS leading to the proliferation of malignant lymphocytes, often associated with Epstein-Barr Virus (EBV).

How it's Diagnosed: videos
Lymph node biopsy, imaging (CT, PET), blood tests, HIV viral load, and EBV testing.

Treatment:
Combination chemotherapy (e.g., CHOP regimen), antiretroviral therapy (ART) for HIV, and targeted therapies (e.g., rituximab).

Medications:
Rituximab (anti-CD20 monoclonal antibody), doxorubicin (anthracycline), vincristine , and prednisone (corticosteroid).

Prevalence: How common the health condition is within a specific population.
Increased risk in people with untreated HIV/AIDS; accounts for 3–5% of all non-Hodgkin lymphomas.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced HIV, low CD4 counts, and co-infection with EBV.

Prognosis: The expected outcome or course of the condition over time.
Highly variable depending on HIV control and lymphoma type; overall 5-year survival ~30–50%.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Opportunistic infections, relapse, and progression to other AIDS-defining illnesses.

Anaplastic Large Cell Lymphoma (ALCL)

Specialty: Hematology

Category: Lymphoid Neoplasms

Sub-category: T-Cell Lymphomas

Symptoms:
swollen lymph nodes; fever; night sweats; fatigue; skin lesions; weight loss; abdominal or chest pain

Root Cause:
Proliferation of T-cells expressing anaplastic lymphoma kinase (ALK), driven by genetic mutations or translocations.

How it's Diagnosed: videos
Lymph node biopsy, immunohistochemistry (CD30-positive cells), ALK gene rearrangement testing, and imaging (CT, PET).

Treatment:
Chemotherapy (CHOP or brentuximab-containing regimens), targeted therapy (e.g., ALK inhibitors), and sometimes stem cell transplantation.

Medications:
Brentuximab vedotin (anti-CD30 antibody-drug conjugate), crizotinib (ALK inhibitor), and CHOP components (cyclophosphamide , doxorubicin , vincristine , prednisone ).

Prevalence: How common the health condition is within a specific population.
Rare, accounting for about 2% of all non-Hodgkin lymphomas; more common in children and young adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations, compromised immune system, and family history.

Prognosis: The expected outcome or course of the condition over time.
Good for ALK-positive ALCL (5-year survival ~70–80%), poorer for ALK-negative subtypes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Relapse, secondary malignancies, and long-term chemotherapy effects.

B-Cell Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
swollen lymph nodes; fever; night sweats; unexplained weight loss; fatigue; abdominal or chest pain; skin rashes or lumps

Root Cause:
Uncontrolled proliferation of abnormal B-lymphocytes, typically originating in the lymphatic system.

How it's Diagnosed: videos
Physical exam, lymph node biopsy, imaging tests (CT, MRI, PET scans), blood tests, bone marrow biopsy, flow cytometry, and immunohistochemistry.

Treatment:
Chemotherapy, targeted therapy, immunotherapy, radiation therapy, stem cell transplantation, and in some cases, surgery.

Medications:
Rituximab (monoclonal antibody)

Prevalence: How common the health condition is within a specific population.
Most common non-Hodgkin lymphoma, accounting for about 85% of cases globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male gender, family history of lymphoma, immunosuppression, viral infections (e.g., EBV, HIV), and chronic inflammation.

Prognosis: The expected outcome or course of the condition over time.
Depends on subtype and stage; early-stage localized lymphoma often has a good prognosis, with a 5-year survival rate exceeding 70% in some cases. Advanced-stage lymphoma is more challenging but can respond well to modern therapies.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Secondary cancers, organ damage due to metastasis, infections, anemia, and treatment-related toxicities.

Chronic Myelogenous Leukemia (CML)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; weight loss; night sweats; splenomegaly; easy bruising or bleeding; bone pain; feeling of fullness in the abdomen

Root Cause:
Unregulated proliferation of myeloid cells due to a genetic translocation forming the Philadelphia chromosome (BCR-ABL fusion gene).

How it's Diagnosed: videos
CBC, bone marrow biopsy, genetic testing for BCR-ABL, and quantitative PCR.

Treatment:
Tyrosine kinase inhibitors (TKIs) as first-line therapy; advanced cases may require stem cell transplantation.

Medications:
Imatinib (TKI)

Prevalence: How common the health condition is within a specific population.
Accounts for about 15% of adult leukemias; most common in individuals aged 50-60.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, radiation exposure, and rare genetic predispositions.

Prognosis: The expected outcome or course of the condition over time.
Excellent with early diagnosis and TKI therapy; most patients achieve long-term remission.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Blast crisis (progression to acute leukemia), infections, and TKI-related side effects.

Diffuse Large B-Cell Lymphoma (DLBCL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
swollen lymph nodes; unexplained fever; night sweats; weight loss; fatigue; loss of appetite; shortness of breath; chest pain

Root Cause:
Rapid and abnormal growth of large B-cells (a type of white blood cell), leading to tumor formation in lymph nodes and/or extranodal sites.

How it's Diagnosed: videos
Physical examination, blood tests, lymph node biopsy, imaging studies (e.g., PET or CT scans), and molecular testing to identify genetic markers and cell surface proteins.

Treatment:
Chemotherapy, immunotherapy, targeted therapy, radiation therapy (if localized), and stem cell transplantation in refractory or relapsed cases.

Medications:
Commonly prescribed medications include R-CHOP regimen (Rituximab – a monoclonal antibody, Cyclophosphamide – an alkylating agent, Doxorubicin – an anthracycline, Vincristine – a vinca alkaloid, and Prednisone – a corticosteroid).

Prevalence: How common the health condition is within a specific population.
DLBCL is the most common subtype of non-Hodgkin lymphoma, accounting for about 30-40% of cases worldwide.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, male sex, family history of lymphoma, weakened immune system, exposure to certain infections (e.g., Epstein-Barr virus), and previous cancer treatments.

Prognosis: The expected outcome or course of the condition over time.
Prognosis varies; approximately 60-70% achieve remission with R-CHOP therapy. Advanced stage, high-risk genetic markers, and refractory disease worsen outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Relapse, tumor lysis syndrome, secondary infections, organ dysfunction, and therapy-related secondary cancers.

Erythroleukemia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; weakness; paleness; easy bruising; bleeding; frequent infections; shortness of breath; bone pain

Root Cause:
Malignant transformation of immature red and white blood cells in the bone marrow, leading to ineffective hematopoiesis.

How it's Diagnosed: videos
Bone marrow biopsy, complete blood count (CBC) showing anemia and blast cells, flow cytometry, and cytogenetic analysis.

Treatment:
Chemotherapy (e.g., induction and consolidation), targeted therapy, supportive care (e.g., blood transfusions), and allogeneic stem cell transplantation for eligible patients.

Medications:
Cytarabine (an antimetabolite), anthracyclines (e.g., daunorubicin ), and hypomethylating agents (e.g., azacitidine or decitabine ) may be used in treatment regimens.

Prevalence: How common the health condition is within a specific population.
Rare, accounting for less than 5% of acute myeloid leukemia (AML) cases.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, prior exposure to chemotherapy or radiation, and genetic predispositions.

Prognosis: The expected outcome or course of the condition over time.
Poor prognosis; 5-year survival rates are low and depend on response to treatment and patient factors.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Pancytopenia, infections, hemorrhage, and disease relapse.

Erythromelalgia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
burning pain in extremities; redness; warmth; swelling; symptoms worsen with heat or exercise

Root Cause:
Dysregulation of blood flow in small blood vessels, often due to underlying blood disorders or nerve dysfunction.

How it's Diagnosed: videos
Clinical evaluation, exclusion of other conditions, and testing for underlying disorders (e.g., blood tests for platelet abnormalities).

Treatment:
Avoidance of triggers, cooling of affected areas, and management of underlying conditions; symptomatic relief may involve medication.

Medications:
Aspirin (antiplatelet), gabapentin or pregabalin (nerve pain modulators), and topical lidocaine or capsaicin creams for localized symptoms.

Prevalence: How common the health condition is within a specific population.
Rare, often associated with myeloproliferative disorders such as essential thrombocytosis or polycythemia vera.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Underlying hematologic conditions, genetic predisposition, and nerve damage.

Prognosis: The expected outcome or course of the condition over time.
Good with treatment; managing the underlying condition can significantly reduce symptoms.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic pain, skin damage, and functional impairment.

Essential Thrombocytosis

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
headache; dizziness; visual disturbances; burning pain in hands and feet; easy bruising; nosebleeds; blood clots

Root Cause:
Overproduction of platelets by megakaryocytes in the bone marrow, often due to mutations in the JAK2, CALR, or MPL genes.

How it's Diagnosed: videos
Blood tests showing elevated platelet count, bone marrow biopsy, and genetic testing for driver mutations.

Treatment:
Low-dose aspirin for symptom relief, cytoreductive therapy (e.g., hydroxyurea), or interferon-alpha for high-risk patients.

Medications:
Hydroxyurea (antineoplastic agent) to reduce platelet count and low-dose aspirin (antiplatelet agent) to prevent clotting.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1-2 per 100,000 individuals annually, typically diagnosed in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age > 50 years, female sex, and genetic mutations (e.g., JAK2, CALR, MPL).

Prognosis: The expected outcome or course of the condition over time.
Generally favorable with treatment; life expectancy close to normal in most cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Blood clots, bleeding, progression to myelofibrosis or acute leukemia.

Follicular Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
painless swollen lymph nodes; fatigue; night sweats; fever; weight loss

Root Cause:
Slow-growing cancer of B lymphocytes characterized by genetic alterations (e.g., t(14;18) translocation) leading to deregulated cell survival.

How it's Diagnosed: videos
Physical exam, lymph node biopsy, imaging studies (CT, PET), and blood tests for LDH and beta-2 microglobulin levels.

Treatment:
Watchful waiting for asymptomatic cases, chemotherapy, immunotherapy (e.g., rituximab), and targeted therapies.

Medications:
Rituximab (monoclonal antibody), bendamustine (alkylating agent), and lenalidomide (immunomodulatory agent) are commonly used.

Prevalence: How common the health condition is within a specific population.
Accounts for 20-30% of non-Hodgkin lymphomas; more common in middle-aged and older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, family history, immune system dysfunction, and certain infections (e.g., HCV).

Prognosis: The expected outcome or course of the condition over time.
Often indolent but incurable; median survival is over 10 years with appropriate management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Transformation to a more aggressive lymphoma (e.g., DLBCL), infections, and therapy-related side effects.

Hematopoietic Stem Cell Transplantation (HSCT)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; weakness; low blood counts leading to anemia, infections, or bleeding tendencies; graft-versus-host disease (gvhd) symptoms in some cases

Root Cause:
Replacement of diseased or damaged bone marrow with healthy stem cells from a donor or the patient (autologous or allogeneic transplantation).

How it's Diagnosed: videos
Diagnosis involves identifying the underlying condition requiring transplantation (e.g., leukemia, lymphoma, myeloma). Matching HLA typing between donor and recipient is critical for allogeneic transplants.

Treatment:
Pre-conditioning with chemotherapy/radiation, infusion of stem cells, supportive care (anti-infection drugs, immunosuppression).

Medications:
Cyclophosphamide (chemotherapy), busulfan (conditioning agent), tacrolimus and cyclosporine (immunosuppressants to prevent GVHD), and antifungal/antiviral agents (e.g., fluconazole , acyclovir ). These include chemotherapeutics, immunosuppressants, and anti-infective drugs.

Prevalence: How common the health condition is within a specific population.
HSCT is used for thousands of patients annually worldwide, with rising applications due to expanding indications.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced disease stage, poor donor-recipient match, age >50, and comorbidities increase risks of complications.

Prognosis: The expected outcome or course of the condition over time.
Highly dependent on the underlying disease and type of transplant; survival rates range from 50–90% for various conditions.

Complications: Additional problems or conditions that may arise as a result of the original condition.
GVHD, infections, organ damage, and relapse of the original disease.

Lymphoblastic Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
rapidly enlarging lymph nodes; shortness of breath or chest pain due to mediastinal mass; fatigue; fever; night sweats; unexplained weight loss

Root Cause:
Aggressive cancer arising from immature T or B lymphoblasts, closely related to acute lymphoblastic leukemia (ALL).

How it's Diagnosed: videos
Biopsy of lymph nodes or affected tissue, immunophenotyping, and imaging studies (CT, PET scan).

Treatment:
Intensive chemotherapy, targeted therapy, and, in some cases, hematopoietic stem cell transplantation.

Medications:
Hyper-CVAD regimen (cyclophosphamide , vincristine , doxorubicin , dexamethasone ); asparaginase ; rituximab for B-cell types. These are chemotherapy drugs and monoclonal antibodies.

Prevalence: How common the health condition is within a specific population.
Rare, accounting for 2–4% of non-Hodgkin lymphoma cases, most common in young adults and children.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, prior radiation or chemotherapy, and immunosuppression.

Prognosis: The expected outcome or course of the condition over time.
Variable; five-year survival rates range from 40–70%, depending on age and response to treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Disease relapse, tumor lysis syndrome, and treatment-related toxicity.

Mantle Cell Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
painless lymph node swelling; fatigue; night sweats; fever; unexplained weight loss; gastrointestinal symptoms like abdominal pain or diarrhea

Root Cause:
Malignancy of B lymphocytes originating in the mantle zone of lymph nodes, associated with a t(11;14) chromosomal translocation.

How it's Diagnosed: videos
Lymph node biopsy, immunohistochemistry (cyclin D1 overexpression), and imaging studies.

Treatment:
Combination chemotherapy, targeted therapy, and autologous stem cell transplantation.

Medications:
R-CHOP (rituximab , cyclophosphamide , doxorubicin , vincristine , prednisone ); BTK inhibitors like ibrutinib or acalabrutinib . These are chemotherapy drugs, monoclonal antibodies, and targeted inhibitors.

Prevalence: How common the health condition is within a specific population.
Accounts for 6–8% of all non-Hodgkin lymphoma cases, more common in men over 60.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, male gender, and genetic mutations (e.g., cyclin D1 overexpression).

Prognosis: The expected outcome or course of the condition over time.
Poor without treatment; median survival of 3–5 years, but targeted therapies and stem cell transplantation improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Relapse, resistance to therapy, and secondary malignancies.

Mediastinal Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
persistent cough; shortness of breath; chest pain; swelling in the face or arms (superior vena cava syndrome); fatigue; fever; night sweats

Root Cause:
A subtype of lymphoma originating in the thymus or mediastinal lymph nodes, commonly associated with primary mediastinal large B-cell lymphoma (PMBCL) or Hodgkin lymphoma.

How it's Diagnosed: videos
Imaging (CT or PET scans), biopsy of the affected tissue, and immunohistochemistry to determine cell type.

Treatment:
Combination chemotherapy, radiation therapy, and targeted therapy.

Medications:
R-CHOP regimen (rituximab , cyclophosphamide , doxorubicin , vincristine , prednisone ); checkpoint inhibitors like pembrolizumab for refractory cases. These include chemotherapy drugs and immunotherapy agents.

Prevalence: How common the health condition is within a specific population.
Accounts for 2–4% of all lymphomas, more common in young women aged 20–40.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Female gender, Epstein-Barr virus, and genetic abnormalities in tumor suppressor genes.

Prognosis: The expected outcome or course of the condition over time.
Good with modern treatment; five-year survival rates exceed 80% for most patients.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Superior vena cava syndrome, tumor lysis syndrome, and relapse.

Mucosa-Associated Lymphoid Tissue Lymphomas (MALTomas)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
abdominal pain; indigestion; weight loss; fatigue; anemia-related symptoms; lymphadenopathy in extranodal sites

Root Cause:
Low-grade B-cell lymphoma arising from mucosa-associated lymphoid tissue, often linked to chronic infections like Helicobacter pylori in the stomach.

How it's Diagnosed: videos
Biopsy of affected tissue, endoscopy for gastric cases, and molecular testing for genetic translocations (e.g., t(11;18)).

Treatment:
Antibiotic therapy for H. pylori-related cases, localized radiation, chemotherapy, or targeted therapy.

Medications:
Antibiotics (amoxicillin , clarithromycin ) for H. pylori; rituximab (anti-CD20 antibody) for systemic disease. These include anti-infective agents and monoclonal antibodies.

Prevalence: How common the health condition is within a specific population.
Rare, comprising 5–8% of non-Hodgkin lymphomas; most common in older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic infection with H. pylori or other pathogens, autoimmune conditions (e.g., Sjögren’s syndrome), and genetic abnormalities.

Prognosis: The expected outcome or course of the condition over time.
Excellent with early treatment; five-year survival exceeds 90% for localized disease.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progression to high-grade lymphoma and organ dysfunction.

Myelodysplastic Syndrome (MDS)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; shortness of breath; frequent infections; easy bruising or bleeding; pale skin (anemia)

Root Cause:
Ineffective blood cell production in the bone marrow, leading to low counts of red cells, white cells, and platelets. Often caused by acquired genetic mutations.

How it's Diagnosed: videos
Bone marrow biopsy, cytogenetic analysis, and blood tests (CBC with peripheral smear).

Treatment:
Supportive care (transfusions, growth factors), chemotherapy, targeted therapy, or stem cell transplantation.

Medications:
Azacitidine and decitabine (DNA hypomethylating agents); lenalidomide (immunomodulator for del(5q) cases); erythropoiesis-stimulating agents (ESAs). These include epigenetic drugs, immunomodulators, and growth factors.

Prevalence: How common the health condition is within a specific population.
Affects approximately 10,000–12,000 people annually in the U.S., primarily older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, prior chemotherapy/radiation, exposure to toxins (e.g., benzene), and genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Variable; median survival ranges from months to years depending on risk group (low vs. high).

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progression to acute myeloid leukemia (AML), infections, and bleeding complications.

Myeloproliferative Disease

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; splenomegaly-related symptoms; easy bruising or bleeding; thrombosis (e.g., stroke or deep vein thrombosis); fever; weight loss

Root Cause:
Overproduction of blood cells (red cells, white cells, or platelets) due to mutations in stem cells, often involving the JAK2, CALR, or MPL genes.

How it's Diagnosed: videos
Blood tests (CBC, peripheral smear), bone marrow biopsy, and genetic testing for mutations.

Treatment:
Phlebotomy, cytoreductive therapy, and targeted therapy; in advanced cases, stem cell transplantation.

Medications:
Hydroxyurea (cytoreductive agent), ruxolitinib (JAK2 inhibitor), and interferon-alpha (cytokine therapy). These include cytotoxic drugs, targeted inhibitors, and cytokines.

Prevalence: How common the health condition is within a specific population.
Rare, with polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) being subtypes. Prevalence varies between 1–10 per 100,000 people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, genetic mutations (e.g., JAK2 V617F), and family history.

Prognosis: The expected outcome or course of the condition over time.
Chronic conditions; survival ranges from 5–20 years depending on subtype and complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Progression to acute leukemia, thrombosis, bleeding, and bone marrow failure.

Non-Hodgkin Lymphoma (NHL)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
swollen lymph nodes; fever; night sweats; unintended weight loss; fatigue; itchy skin; abdominal pain or swelling

Root Cause:
Abnormal proliferation of lymphocytes, often linked to genetic mutations, immune system dysfunction, or exposure to certain infections (e.g., Epstein-Barr virus).

How it's Diagnosed: videos
Physical examination, blood tests, imaging studies (CT, PET), lymph node biopsy, bone marrow biopsy.

Treatment:
Chemotherapy, immunotherapy, targeted therapy, radiation therapy, stem cell transplant in advanced cases.

Medications:
Rituximab (monoclonal antibody), CHOP regimen (cyclophosphamide , doxorubicin , vincristine , prednisone ), other targeted therapies like ibrutinib or lenalidomide .

Prevalence: How common the health condition is within a specific population.
Approximately 4% of all cancers in the U.S.; more common in men and older adults.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age over 60, weakened immune system, infections (HIV, EBV, H. pylori), exposure to chemicals or radiation, family history of lymphoma.

Prognosis: The expected outcome or course of the condition over time.
Varies widely based on subtype and stage; 5-year survival rate is around 73% overall but higher for indolent forms.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased risk of infections, secondary malignancies, organ dysfunction due to metastasis, treatment-related side effects.

Polycythemia Vera

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
headache; dizziness; itching (especially after a hot shower); fatigue; blurred vision; red or flushed skin; blood clots

Root Cause:
Mutation in the JAK2 gene leads to overproduction of red blood cells, white cells, and platelets.

How it's Diagnosed: videos
Complete blood count (CBC), JAK2 mutation test, bone marrow biopsy, erythropoietin level.

Treatment:
Phlebotomy, low-dose aspirin, cytoreductive therapy with hydroxyurea or ruxolitinib.

Medications:
Hydroxyurea (cytoreductive agent), ruxolitinib (JAK2 inhibitor), low-dose aspirin (antithrombotic).

Prevalence: How common the health condition is within a specific population.
Rare; approximately 1-2 cases per 100,000 annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age over 60, family history, genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Manageable with treatment; life expectancy approaches normal with proper therapy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Blood clots, stroke, heart attack, progression to myelofibrosis or acute leukemia.

Primary Myelofibrosis

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
fatigue; anemia; bone pain; abdominal discomfort from splenomegaly; night sweats; weight loss

Root Cause:
Abnormal stem cell proliferation leads to fibrosis of bone marrow, reducing its ability to produce blood cells.

How it's Diagnosed: videos
CBC, bone marrow biopsy, JAK2, CALR, or MPL mutation testing.

Treatment:
JAK2 inhibitors (e.g., ruxolitinib), blood transfusions, stem cell transplant in advanced cases.

Medications:
Ruxolitinib (JAK2 inhibitor), thalidomide (antiangiogenic agent), lenalidomide (immunomodulator).

Prevalence: How common the health condition is within a specific population.
Approximately 1.5 cases per 100,000 annually.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age over 50, mutations in JAK2, CALR, or MPL genes.

Prognosis: The expected outcome or course of the condition over time.
Median survival 5-7 years; better outcomes with stem cell transplantation.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, infections, progression to acute myeloid leukemia.

Secondary Polycythemia

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
headache; dizziness; flushing; itching after a warm bath; shortness of breath; fatigue

Root Cause:
Excess erythropoietin production due to chronic hypoxia, tumors, or other conditions that increase red blood cell production.

How it's Diagnosed: videos
CBC, erythropoietin levels, arterial blood gas, imaging to identify potential causes (e.g., tumors, lung disease).

Treatment:
Address underlying cause (e.g., oxygen therapy for hypoxia, surgical removal of tumors), phlebotomy if necessary.

Medications:
No specific medications for polycythemia itself; underlying conditions dictate treatment (e.g., erythropoiesis-stimulating agents are avoided).

Prevalence: How common the health condition is within a specific population.
More common than primary polycythemia; varies based on prevalence of causative factors like chronic lung disease.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Smoking, chronic obstructive pulmonary disease (COPD), high altitude, kidney tumors, sleep apnea.

Prognosis: The expected outcome or course of the condition over time.
Good if underlying cause is treatable; chronic cases require long-term management.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Increased risk of thrombosis, stroke, or heart attack due to elevated red blood cell count.

Thyroid Lymphoma

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
rapidly enlarging thyroid mass; difficulty swallowing; difficulty breathing; hoarseness; weight loss; fever; night sweats

Root Cause:
Malignant lymphocytes infiltrate the thyroid, often associated with chronic lymphocytic thyroiditis (Hashimoto's thyroiditis).

How it's Diagnosed: videos
Fine needle aspiration (FNA) or core biopsy of thyroid mass, imaging (CT or PET scans), immunohistochemistry.

Treatment:
Combination of chemotherapy and radiation therapy; sometimes surgery for airway obstruction.

Medications:
Rituximab (monoclonal antibody), CHOP regimen (cyclophosphamide , doxorubicin , vincristine , prednisone ).

Prevalence: How common the health condition is within a specific population.
Rare; accounts for less than 5% of all thyroid malignancies.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Older age, female sex, underlying Hashimoto’s thyroiditis, family history of lymphoma.

Prognosis: The expected outcome or course of the condition over time.
Good if detected early; 5-year survival rate is over 80% with appropriate treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Compression of trachea or esophagus, metastasis to other organs, treatment-related toxicities.

X-linked Lymphoproliferative Syndrome (XLP)

Specialty: Hematology

Category: Stem Cells and Disorders

Symptoms:
severe reactions to epstein-barr virus (ebv) infection; fever; enlarged spleen; jaundice; low blood cell counts; increased risk of lymphoma

Root Cause:
Genetic mutation in SH2D1A or XIAP genes leading to dysregulated immune response to EBV and other infections.

How it's Diagnosed: videos
Genetic testing, EBV titers, flow cytometry to assess lymphocyte function.

Treatment:
Hematopoietic stem cell transplantation (curative), supportive care for infections and complications, immunoglobulin replacement therapy.

Medications:
Immunoglobulin (replacement therapy), corticosteroids for inflammatory responses, antivirals for EBV management.

Prevalence: How common the health condition is within a specific population.
Rare; occurs in 1-2 per million males.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of XLP, male sex (X-linked inheritance).

Prognosis: The expected outcome or course of the condition over time.
Poor without stem cell transplant; survival rates improve significantly with early intervention.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hemophagocytic lymphohistiocytosis (HLH), lymphoma, aplastic anemia, recurrent infections.

Alloimmunization From Transfusions

Specialty: Hematology

Category: Transfusion Medicine

Symptoms:
fever; chills; anemia; jaundice; delayed hemolytic reactions

Root Cause:
Formation of antibodies against non-self antigens on transfused red blood cells, platelets, or plasma proteins due to immune incompatibility.

How it's Diagnosed: videos
Blood group typing, antibody screening (indirect antiglobulin test), direct antiglobulin test (DAT), and crossmatching of donor blood.

Treatment:
Use of antigen-matched or phenotype-matched blood products; immunosuppressive therapies in severe cases.

Medications:
Erythropoiesis-stimulating agents (e.g., epoetin alfa) to reduce the need for transfusions; corticosteroids (e.g., prednisone ) to manage immune responses; intravenous immunoglobulin (IVIG) in specific cases.

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 1-2% of all transfusion recipients but higher in patients with repeated transfusions, such as those with sickle cell disease or thalassemia.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Multiple transfusions, non-identical blood group antigens, pregnancy, or a history of transplantation.

Prognosis: The expected outcome or course of the condition over time.
Generally good with appropriate management, but complications can arise in cases of severe immune responses.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hemolytic reactions, increased difficulty in finding compatible blood for future transfusions, organ dysfunction due to severe hemolysis.

Blood Substitutes

Specialty: Hematology

Category: Transfusion Medicine

Symptoms:
pallor; shortness of breath; fatigue; dizziness; low blood pressure (in cases of blood loss)

Root Cause:
The need for alternative oxygen-carrying or volume-expanding solutions due to insufficient or unavailable donor blood.

How it's Diagnosed: videos
Assessment of hemoglobin levels, oxygen-carrying capacity, and hemodynamic stability.

Treatment:
Administration of hemoglobin-based oxygen carriers (HBOCs) or perfluorocarbon emulsions (PFCs) to maintain oxygen delivery and plasma expanders for volume replacement.

Medications:
Hemoglobin-based oxygen carriers (e.g., Hemopure, PolyHeme), perfluorocarbon-based substitutes (e.g., Oxygent), crystalloids or colloids for volume replacement.

Prevalence: How common the health condition is within a specific population.
Experimental use; not widely available as routine clinical practice due to safety concerns and limited indications.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Situations of massive blood loss, rare blood types, or transfusion refusal (e.g., religious reasons).

Prognosis: The expected outcome or course of the condition over time.
Promising for specific clinical scenarios but limited by side effects and regulatory approval.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hypertension, renal toxicity, oxidative stress, and inflammation associated with synthetic substitutes.

Intravenous Immunoglobulin (IVIG) Therapy

Specialty: Hematology

Category: Immunotherapy

Symptoms:
fever; fatigue; rash; nausea; muscle aches (side effects of ivig administration)

Root Cause:
Utilized to modulate the immune response or replace deficient antibodies in immune-mediated conditions or primary immunodeficiencies.

How it's Diagnosed: videos
Indications based on clinical presentations such as immune thrombocytopenia, Kawasaki disease, or primary immunodeficiency; laboratory confirmation of low immunoglobulin levels.

Treatment:
Intravenous infusion of pooled immunoglobulins from healthy donors; dose and frequency vary depending on the condition.

Medications:
Immunoglobulin preparations (e.g., Gammagard , Privigen , Octagam ).

Prevalence: How common the health condition is within a specific population.
Widely used in clinical practice for various immune-mediated and immunodeficient conditions.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Autoimmune diseases, genetic immunodeficiencies, or secondary immunosuppression.

Prognosis: The expected outcome or course of the condition over time.
Often effective in managing immune-mediated conditions or replacing deficient antibodies.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Allergic reactions, thromboembolism, renal dysfunction, aseptic meningitis.

Transfusion Reactions

Specialty: Hematology

Category: Transfusion Medicine

Symptoms:
fever; chills; rash; shortness of breath; hypotension; dark urine; back pain

Root Cause:
Adverse reactions caused by incompatibility, contamination, or immune response to transfused blood products.

How it's Diagnosed: videos
Clinical observation of symptoms during or after transfusion; direct antiglobulin test (DAT), blood culture (if bacterial contamination is suspected), and laboratory markers of hemolysis (e.g., LDH, bilirubin, and haptoglobin levels).

Treatment:
Immediate discontinuation of the transfusion, supportive care (e.g., fluids, oxygen), antihistamines for mild reactions, corticosteroids for severe allergic responses, and antibiotics if infection is suspected.

Medications:
Antihistamines (e.g., diphenhydramine ), corticosteroids (e.g., prednisone ), epinephrine for anaphylaxis, and antibiotics for bacterial contamination.

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 1-2% of transfusions; severity ranges from mild allergic reactions to severe hemolytic reactions.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Non-matching blood types, immune disorders, or pre-existing antibodies.

Prognosis: The expected outcome or course of the condition over time.
Mild reactions resolve with appropriate treatment; severe reactions can be life-threatening but are preventable with careful crossmatching and screening.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hemolysis, organ failure, sepsis, anaphylaxis, or death in severe cases.

Transfusion-Transmitted Diseases

Specialty: Hematology

Category: Transfusion Medicine

Symptoms:
fever; fatigue; jaundice; rash; enlarged lymph nodes; abnormal liver function tests

Root Cause:
Transmission of infectious agents (e.g., viruses, bacteria, or parasites) through contaminated blood products.

How it's Diagnosed: videos
Laboratory testing for specific pathogens (e.g., serological tests, PCR), patient history of transfusion, and clinical signs of infection.

Treatment:
Depends on the specific pathogen; antiviral medications for viral infections (e.g., hepatitis B or HIV), antibiotics for bacterial infections, and antiparasitic drugs for parasitic infections.

Medications:
Antivirals (e.g., tenofovir for hepatitis B, antiretroviral therapy for HIV), antibiotics (e.g., ceftriaxone for bacterial infections), and antiparasitic drugs (e.g., chloroquine for malaria).

Prevalence: How common the health condition is within a specific population.
Rare in developed countries due to stringent screening, but higher in regions with less stringent blood safety measures.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Receiving unscreened or inadequately tested blood products, transfusions in areas with high endemic rates of infections.

Prognosis: The expected outcome or course of the condition over time.
Varies depending on the disease; prompt diagnosis and treatment generally improve outcomes.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic infections, organ damage, or death if untreated.

Hereditary Elliptocytosis

Specialty: Hematology

Category: Uncommon RBC Membrane Disorders

Symptoms:
fatigue; pallor; jaundice; splenomegaly; mild anemia; increased elliptically-shaped red blood cells on blood smear

Root Cause:
Mutations in genes encoding cytoskeletal proteins (such as spectrin or protein 4.1) lead to weakened red blood cell membranes and elliptical shapes.

How it's Diagnosed: videos
Peripheral blood smear showing elliptocytes; osmotic fragility test; genetic testing for cytoskeletal protein mutations.

Treatment:
Typically supportive care; splenectomy in severe cases to reduce hemolysis.

Medications:
No direct medications; folic acid supplementation may be recommended to support red blood cell production.

Prevalence: How common the health condition is within a specific population.
Estimated prevalence of 1 in 2,000–5,000 individuals, more common in populations with African or Mediterranean ancestry.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, genetic predisposition.

Prognosis: The expected outcome or course of the condition over time.
Generally good; most cases are asymptomatic or mild. Severe cases may lead to chronic hemolytic anemia requiring intervention.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Gallstones, splenomegaly, severe anemia, aplastic crisis during infections (e.g., parvovirus B19).

Hereditary Pyropoikilocytosis

Specialty: Hematology

Category: Uncommon RBC Membrane Disorders

Symptoms:
severe anemia; jaundice; splenomegaly; fatigue; fragmented red blood cells on blood smear; extreme red cell sensitivity to heat

Root Cause:
A severe form of hereditary elliptocytosis caused by significant mutations in cytoskeletal proteins, leading to extreme red cell fragility and thermal sensitivity.

How it's Diagnosed: videos
Peripheral blood smear showing schistocytes and elliptocytes; osmotic fragility test; thermal sensitivity test; genetic analysis.

Treatment:
Supportive care, regular blood transfusions in severe cases, and splenectomy to reduce hemolysis.

Medications:
No direct medications; folic acid supplementation is commonly used.

Prevalence: How common the health condition is within a specific population.
Rare; exact prevalence unknown, but often diagnosed in individuals of African descent.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, inheritance of specific genetic mutations.

Prognosis: The expected outcome or course of the condition over time.
Variable; severe cases may require lifelong management of anemia. Splenectomy can improve symptoms.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe hemolytic anemia, gallstones, increased susceptibility to infections post-splenectomy.

Hereditary Spherocytosis

Specialty: Hematology

Category: Uncommon RBC Membrane Disorders

Symptoms:
anemia; jaundice; splenomegaly; fatigue; shortness of breath; spherocytes on blood smear

Root Cause:
Mutations in genes encoding membrane proteins (such as ankyrin, spectrin, or band 3) cause red blood cells to lose their biconcave shape and become spherical, leading to reduced deformability and increased hemolysis.

How it's Diagnosed: videos
Peripheral blood smear, osmotic fragility test, eosin-5-maleimide binding test (flow cytometry).

Treatment:
Folic acid supplementation, splenectomy in severe cases, and blood transfusions for acute anemia.

Medications:
No specific medications; supportive care includes folic acid and, in rare cases, erythropoiesis-stimulating agents.

Prevalence: How common the health condition is within a specific population.
1 in 2,000–5,000 individuals, more common in Northern European populations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, genetic inheritance.

Prognosis: The expected outcome or course of the condition over time.
Good with appropriate management; splenectomy often resolves anemia.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Gallstones, aplastic crisis during infections, post-splenectomy sepsis.

Spur Cell Anemia

Specialty: Hematology

Category: Uncommon RBC Membrane Disorders

Symptoms:
fatigue; jaundice; splenomegaly; severe anemia; irregularly spiked red blood cells (acanthocytes) on blood smear

Root Cause:
Alterations in red blood cell membrane lipids, often secondary to liver disease, lead to the formation of spiked red blood cells (acanthocytes) that are prone to splenic destruction.

How it's Diagnosed: videos
Blood smear showing acanthocytes; liver function tests; assessment of underlying liver disease (e.g., cirrhosis).

Treatment:
Management of underlying liver disease, supportive care, and blood transfusions in severe cases.

Medications:
No direct medications; treatment focuses on managing liver disease (e.g., diuretics, albumin , or treatments for liver failure).

Prevalence: How common the health condition is within a specific population.
Rare; associated with advanced liver disease, particularly cirrhosis.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Chronic liver disease, alcoholism, malnutrition.

Prognosis: The expected outcome or course of the condition over time.
Poor if underlying liver disease is advanced; anemia may improve with liver transplantation.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe anemia, hepatic encephalopathy, multiorgan failure.