Condition Lookup

Iron-deficiency anemia

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Symptoms:
fatigue; weakness; pale skin; shortness of breath; cold hands and feet; brittle nails; cravings for non-nutritive substances (pica); dizziness; headaches

Root Cause:
Caused by insufficient iron levels in the body, leading to reduced hemoglobin production and decreased oxygen-carrying capacity of red blood cells.

How it's Diagnosed: videos
Complete blood count (CBC) showing low hemoglobin and hematocrit; low serum ferritin and iron levels; increased total iron-binding capacity (TIBC); peripheral blood smear showing microcytic, hypochromic red blood cells.

Treatment:
Iron supplementation (oral or intravenous), dietary changes to include iron-rich foods (e.g., red meat, leafy greens, fortified cereals), and treating the underlying cause of iron loss (e.g., bleeding, malabsorption).

Medications:
Oral iron supplements, such as ferrous sulfate, ferrous gluconate, or ferrous fumarate, are the first-line treatment. Intravenous iron formulations, such as ferric carboxymaltose or iron sucrose, may be used in cases of severe deficiency or malabsorption.

Prevalence: How common the health condition is within a specific population.
Affects approximately 20–25% of children worldwide; more common in developing countries.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Premature birth, inadequate dietary iron intake, rapid growth during childhood, chronic blood loss (e.g., gastrointestinal bleeding), malabsorption disorders (e.g., celiac disease).

Prognosis: The expected outcome or course of the condition over time.
Excellent with appropriate treatment; symptoms typically resolve within weeks, and hemoglobin levels normalize in a few months. Untreated cases can result in developmental delays, cognitive impairment, and heart complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Developmental delays, cognitive and behavioral issues, weakened immune system, and heart problems like tachycardia and heart failure in severe, prolonged cases.

Sickle Cell Disease

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
episodes of pain (vaso-occlusive crisis); fatigue; swelling in hands and feet; frequent infections; delayed growth and puberty; yellowish skin or eyes (jaundice); shortness of breath

Root Cause:
Caused by a genetic mutation leading to abnormal hemoglobin (HbS), which results in red blood cells that are rigid and shaped like a crescent (sickle), leading to blockages in blood flow and reduced oxygen delivery to tissues.

How it's Diagnosed: videos
Newborn screening with hemoglobin electrophoresis; confirmatory testing includes Hb electrophoresis or DNA analysis; CBC may show anemia; peripheral blood smear reveals sickle-shaped cells.

Treatment:
Pain management, blood transfusions, hydroxyurea (to increase fetal hemoglobin), and bone marrow transplant in severe cases. Preventative care includes vaccination, prophylactic antibiotics (e.g., penicillin), and folic acid supplementation.

Medications:
Hydroxyurea (antimetabolite) reduces the frequency of sickle cell crises and increases fetal hemoglobin. Pain medications (e.g., NSAIDs, opioids) are used during crises. Prophylactic penicillin is given to prevent infections in children.

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 365 African-American births in the U.S.; globally, more common in regions like sub-Saharan Africa, the Middle East, and India.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Having two copies of the sickle cell gene (autosomal recessive inheritance); family history of the condition.

Prognosis: The expected outcome or course of the condition over time.
Chronic and lifelong condition; life expectancy has improved with advances in treatment, but complications can reduce quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, acute chest syndrome, infections, organ damage, leg ulcers, gallstones, and severe anemia.

Thalassemia

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
fatigue; weakness; pale or yellowish skin; slow growth; bone deformities (especially in the face); dark urine; shortness of breath

Root Cause:
Caused by genetic mutations leading to reduced or absent production of hemoglobin chains (alpha or beta), resulting in ineffective red blood cell production and anemia.

How it's Diagnosed: videos
CBC showing microcytic, hypochromic anemia; hemoglobin electrophoresis to detect abnormal hemoglobin; DNA analysis for genetic confirmation.

Treatment:
Blood transfusions (for moderate to severe cases), iron chelation therapy to prevent iron overload, folic acid supplements, and bone marrow transplantation in select cases.

Medications:
Deferoxamine , deferasirox , or deferiprone (iron chelators) are used to prevent iron overload due to frequent transfusions. Folic acid supplements support red blood cell production.

Prevalence: How common the health condition is within a specific population.
High prevalence in Mediterranean, Middle Eastern, South Asian, and African populations; approximately 5% of the global population carries thalassemia genes.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inheritance of one or two defective hemoglobin genes; more severe forms (e.g., beta-thalassemia major) occur with two defective copies.

Prognosis: The expected outcome or course of the condition over time.
Variable depending on the severity; individuals with mild forms (trait or minor) lead normal lives, while severe forms require lifelong treatment. Bone marrow transplantation can be curative.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Iron overload (from transfusions), organ damage (heart, liver, endocrine system), infections, and bone deformities.

Hemophilia

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
prolonged bleeding; spontaneous bleeding into joints (hemarthrosis); easy bruising; excessive bleeding after injury or surgery; blood in urine or stool

Root Cause:
Genetic deficiency of clotting factors (commonly Factor VIII in Hemophilia A or Factor IX in Hemophilia B) leading to impaired blood clotting.

How it's Diagnosed: videos
Prolonged activated partial thromboplastin time (aPTT) test; specific assays for clotting factor levels confirm the diagnosis. Genetic testing identifies mutations.

Treatment:
Replacement therapy with recombinant or plasma-derived clotting factor concentrates; desmopressin (for mild Hemophilia A); antifibrinolytics like tranexamic acid; physical therapy for joint health.

Medications:
Recombinant Factor VIII or IX products for prophylaxis and treatment of bleeding episodes; desmopressin (a synthetic vasopressin analog) for mild Hemophilia A.

Prevalence: How common the health condition is within a specific population.
Hemophilia A occurs in 1 in 5,000 male births; Hemophilia B is less common, occurring in 1 in 25,000 male births.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of the condition (X-linked recessive inheritance).

Prognosis: The expected outcome or course of the condition over time.
Lifelong condition; modern treatments significantly improve quality of life, though severe cases can lead to joint damage and other complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Joint damage (hemophilic arthropathy), intracranial hemorrhage, infections from blood products (rare with modern treatments), and inhibitor development against clotting factors.

Idiopathic Thrombocytopenic Purpura (ITP)

Specialty: Pediatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
easy or excessive bruising; petechiae (tiny red spots on the skin); prolonged bleeding; spontaneous nosebleeds; bleeding gums; blood in urine or stool; heavy menstrual bleeding in adolescents

Root Cause:
Autoimmune destruction of platelets, resulting in thrombocytopenia (low platelet count) and increased bleeding risk. The exact cause is unknown but often follows a viral infection.

How it's Diagnosed: videos
CBC showing low platelet count; exclusion of other causes (e.g., bone marrow biopsy if needed); peripheral smear excludes platelet clumping or abnormalities.

Treatment:
Observation for mild cases; corticosteroids (e.g., prednisone) for initial treatment; intravenous immunoglobulin (IVIG) or anti-D immunoglobulin for rapid platelet increase; splenectomy or rituximab for refractory cases.

Medications:
Corticosteroids (e.g., prednisone ), IVIG, anti-D immunoglobulin, and thrombopoietin receptor agonists (e.g., eltrombopag , romiplostim ).

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 10,000 children per year; more common in children aged 2–7 years.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Recent viral infections, autoimmune conditions, and vaccinations (rarely).

Prognosis: The expected outcome or course of the condition over time.
Excellent in most pediatric cases; ITP often resolves spontaneously within 6 months in children. Chronic ITP occurs in less than 20% of cases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe bleeding (rare), chronic ITP, and side effects of treatment (e.g., immunosuppression).

Anemia (Iron deficiency, chronic disease, etc.)

Specialty: Senior Health and Geriatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
fatigue; weakness; pale skin; shortness of breath; dizziness; cold hands and feet; chest pain (in severe cases)

Root Cause:
A lack of healthy red blood cells to carry adequate oxygen to tissues, often due to low iron levels or chronic disease affecting red blood cell production.

How it's Diagnosed: videos
Blood tests (complete blood count (CBC), iron studies, ferritin levels, reticulocyte count), bone marrow biopsy (in some cases).

Treatment:
Iron supplementation (oral or intravenous), treatment of underlying causes (such as addressing chronic disease), blood transfusions in severe cases.

Medications:
Oral iron supplements (e.g., ferrous sulfate, ferrous gluconate) are commonly prescribed to treat iron deficiency anemia. Intravenous iron (e.g., iron sucrose, ferric gluconate) may be used for more severe or resistant cases. Erythropoiesis-stimulating agents may be prescribed in anemia due to chronic disease.

Prevalence: How common the health condition is within a specific population.
Anemia affects approximately 25% of the global population, with higher prevalence in elderly individuals.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Poor diet (low iron intake), chronic diseases (e.g., kidney disease, diabetes), gastrointestinal conditions (e.g., Crohn's disease), blood loss (e.g., menstruation, gastrointestinal bleeding), age (elderly individuals are at higher risk).

Prognosis: The expected outcome or course of the condition over time.
If treated appropriately, the prognosis is generally good. However, untreated anemia can lead to severe complications like heart failure or cognitive impairment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart failure, fatigue affecting quality of life, cognitive decline, complications from untreated underlying diseases.

Myelodysplastic Syndromes

Specialty: Senior Health and Geriatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
fatigue; frequent infections; unexplained bruising or bleeding; pale skin; shortness of breath; weakness

Root Cause:
A group of disorders caused by poorly formed or dysfunctional blood cells in the bone marrow. There is a problem with the maturation of blood cells, leading to ineffective blood cell production.

How it's Diagnosed: videos
Blood tests (CBC, peripheral blood smear), bone marrow biopsy, cytogenetic analysis.

Treatment:
Supportive care (e.g., blood transfusions), chemotherapy, stem cell transplant (in some cases), and medications to stimulate bone marrow production (e.g., lenalidomide, growth factors).

Medications:
Medications include growth factors like erythropoietin and granulocyte-colony stimulating factor (G-CSF) to stimulate blood cell production, immunosuppressive agents (e.g., antithymocyte globulin ), and chemotherapy drugs for more aggressive cases.

Prevalence: How common the health condition is within a specific population.
MDS is more common in older adults, with an incidence of 4 to 5 cases per 100,000 people annually. The risk increases with age.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age (most cases occur in people aged 60 and older), previous chemotherapy or radiation treatments, exposure to chemicals (e.g., benzene), genetic mutations.

Prognosis: The expected outcome or course of the condition over time.
The prognosis varies depending on the type of MDS and response to treatment. Some forms are relatively indolent, while others may progress to acute myeloid leukemia (AML).

Complications: Additional problems or conditions that may arise as a result of the original condition.
Development of acute leukemia, severe infections, bleeding complications, anemia requiring repeated transfusions.

Thrombocytopenia

Specialty: Senior Health and Geriatrics

Category: Hematologic and Oncologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
easy bruising; petechiae (small red spots on the skin); excessive bleeding from minor cuts; fatigue; nosebleeds; heavy menstrual periods

Root Cause:
A low platelet count in the blood, which can result from decreased production in the bone marrow, increased destruction of platelets, or sequestration in the spleen.

How it's Diagnosed: videos
Blood tests (CBC), platelet count, peripheral blood smear, bone marrow biopsy, and tests to evaluate for underlying conditions (e.g., autoimmune diseases, infections).

Treatment:
Treatment varies based on the underlying cause. Options include platelet transfusions, corticosteroids, immunoglobulin therapy, or treatment of the underlying disorder (e.g., chronic liver disease, leukemia).

Medications:
Corticosteroids (e.g., prednisone ) may be used to reduce immune system activity if the thrombocytopenia is autoimmune in nature. Other medications include intravenous immunoglobulin (IVIg) or thrombopoietin receptor agonists (e.g., eltrombopag , romiplostim ) to stimulate platelet production.

Prevalence: How common the health condition is within a specific population.
Thrombocytopenia affects around 1 in 1000 individuals, with higher prevalence in older adults and those with certain underlying conditions such as autoimmune diseases or leukemia.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Age, underlying conditions (e.g., autoimmune disorders, infections, liver disease), certain medications (e.g., heparin, chemotherapy), alcohol use, and viral infections (e.g., HIV, hepatitis).

Prognosis: The expected outcome or course of the condition over time.
Prognosis depends on the underlying cause. In many cases, treatment can improve platelet counts, but severe thrombocytopenia can lead to bleeding complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Major bleeding (e.g., gastrointestinal bleeding, intracranial hemorrhage), anemia, infections due to associated conditions, and reduced quality of life due to symptoms.

Hereditary spherocytosis

Specialty: Genetics

Category: Immune and Hematologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
anemia; jaundice; splenomegaly; fatigue; shortness of breath; gallstones

Root Cause:
Genetic defect in red blood cell membrane proteins (ankyrin, spectrin, or others), leading to spherical red blood cells that are prone to hemolysis.

How it's Diagnosed: videos
Blood smear (reveals spherocytes), osmotic fragility test, flow cytometry, and family history.

Treatment:
Splenectomy (if severe), folic acid supplementation, and managing anemia symptoms.

Medications:
Folic acid supplementation to support red blood cell production. No direct medication treats the structural defect; antibiotics or vaccines may be used prophylactically post-splenectomy.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 2,000 individuals of Northern European descent.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of hereditary spherocytosis.

Prognosis: The expected outcome or course of the condition over time.
Generally good with treatment; splenectomy significantly reduces hemolysis, but infection risks increase.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Gallstones, severe anemia, aplastic crises (especially following parvovirus B19 infection), and increased infection risk post-splenectomy.

Beta-thalassemia

Specialty: Genetics

Category: Immune and Hematologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
severe anemia; jaundice; growth delays; bone deformities; splenomegaly; fatigue

Root Cause:
Mutation in the HBB gene leads to reduced or absent production of beta-globin chains, causing defective hemoglobin synthesis and hemolysis.

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

Treatment:
Regular blood transfusions, iron chelation therapy, bone marrow transplantation in severe cases.

Medications:
Deferoxamine , deferasirox , or deferiprone for iron overload management; folic acid supplementation may support red blood cell production.

Prevalence: How common the health condition is within a specific population.
Common in Mediterranean, Middle Eastern, and South Asian populations; carrier frequency varies regionally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, geographic origin (high prevalence in malaria-endemic regions).

Prognosis: The expected outcome or course of the condition over time.
With treatment, patients can live into adulthood, though complications from iron overload and organ damage may occur.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart failure, liver disease, endocrine dysfunction (due to iron overload), and growth impairment.

Hemophilia A and B

Specialty: Genetics

Category: Immune and Hematologic Disorders

Sub-category: Hematologic Disorders

Symptoms:
prolonged bleeding; easy bruising; spontaneous joint bleeding; hematuria

Root Cause:
Deficiency or dysfunction of clotting factor VIII (Hemophilia A) or factor IX (Hemophilia B), leading to impaired blood clotting.

How it's Diagnosed: videos
Clotting tests (prolonged activated partial thromboplastin time [aPTT]), specific factor assays.

Treatment:
Replacement therapy with recombinant or plasma-derived clotting factors, prophylactic factor infusions.

Medications:
Recombinant factor VIII or IX, desmopressin (for mild Hemophilia A), emicizumab (a monoclonal antibody for Hemophilia A).

Prevalence: How common the health condition is within a specific population.
Approximately 1 in 5,000 male births (Hemophilia A); Hemophilia B is rarer.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history; more common in males due to X-linked inheritance.

Prognosis: The expected outcome or course of the condition over time.
With prophylactic treatment, most individuals can lead near-normal lives; complications depend on access to treatment.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Joint damage (hemarthrosis), intracranial hemorrhage, inhibitor development (antibodies against treatment factors).

Sickle cell disease

Specialty: Genetics

Category: Immune and Hematologic Disorders

Sub-category: Hematologic Disorders

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

Root Cause:
Mutation in the HBB gene leads to production of abnormal hemoglobin S, causing red blood cells to deform into a sickle shape and obstruct blood flow.

How it's Diagnosed: videos
Hemoglobin electrophoresis, blood smear, and genetic testing.

Treatment:
Pain management, hydroxyurea (to reduce sickling), blood transfusions, and bone marrow transplant in severe cases.

Medications:
Hydroxyurea (increases fetal hemoglobin levels), L-glutamine (reduces oxidative stress), voxelotor (improves hemoglobin function), crizanlizumab (reduces vaso-occlusive crises).

Prevalence: How common the health condition is within a specific population.
Most common in African, Mediterranean, Middle Eastern, and Indian populations; affects approximately 1 in 365 African American births in the U.S.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, carrier status (sickle cell trait).

Prognosis: The expected outcome or course of the condition over time.
Varies with treatment; life expectancy has improved with modern care but complications can limit quality of life.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Acute chest syndrome, stroke, organ damage (kidney, spleen, liver), infections, and pulmonary hypertension.

Porphyria-related toxicity

Specialty: Toxicology

Category: Endogenous Toxins

Sub-category: Hematologic Disorders

Symptoms:
abdominal pain; nausea; vomiting; constipation; dark urine; seizures; muscle weakness; anxiety; hallucinations

Root Cause:
Accumulation of porphyrins or their precursors due to a defect in the heme biosynthesis pathway, leading to neurotoxicity and other systemic effects.

How it's Diagnosed: videos
Urine and blood tests for porphyrins and precursors (e.g., aminolevulinic acid, porphobilinogen); genetic testing to identify specific mutations.

Treatment:
Glucose infusions or hemin administration to suppress heme biosynthesis, along with supportive care to manage symptoms. Avoidance of triggering factors such as certain medications or fasting.

Medications:
Hemin (synthetic heme, used to downregulate porphyrin production), glucose (for metabolic support).

Prevalence: How common the health condition is within a specific population.
Rare, with an estimated prevalence of 1 in 25,000 to 1 in 50,000 for acute porphyrias.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, use of triggering medications (e.g., barbiturates, sulfonamides), alcohol consumption, hormonal changes (e.g., during menstruation).

Prognosis: The expected outcome or course of the condition over time.
With early diagnosis and management, symptoms are reversible, but severe attacks can lead to long-term complications or death.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic pain, paralysis, kidney failure, liver damage, severe neurological deficits.