Condition Lookup
Category:
Immune and Hematologic Disorders
Number of Conditions: 7
Severe Combined Immunodeficiency (SCID)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
frequent severe infections; failure to thrive; persistent diarrhea; poor wound healing; skin rashes
Root Cause:
Mutations in genes critical for T-cell and B-cell development, resulting in a severely compromised immune system.
How it's Diagnosed: videos
Newborn screening (TREC assay), blood tests to assess T-cell numbers and function, genetic testing to identify causative mutations.
Treatment:
Hematopoietic stem cell transplantation (HSCT), gene therapy (for specific mutations), and enzyme replacement therapy (in adenosine deaminase deficiency-related SCID).
Medications:
Preventative antimicrobials (e.g., trimethoprim-sulfamethoxazole for infection prophylaxis); immunoglobulin replacement therapy to prevent infections; corticosteroids to reduce inflammation in some cases.
Prevalence:
How common the health condition is within a specific population.
Approximately 1 in 58,000 live births globally.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Family history of SCID, consanguineous parentage.
Prognosis:
The expected outcome or course of the condition over time.
Without treatment, fatal within the first year of life due to infections; with early intervention, survival rates improve dramatically (80-90% with HSCT).
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic infections, graft-versus-host disease (after HSCT), and long-term immune dysfunction.
Chronic Granulomatous Disease (CGD)
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent bacterial and fungal infections; abscess formation; chronic inflammation; failure to thrive; skin granulomas
Root Cause:
Mutations in genes affecting the NADPH oxidase complex, leading to impaired production of reactive oxygen species by phagocytes and defective pathogen killing.
How it's Diagnosed: videos
Nitroblue tetrazolium (NBT) test, dihydrorhodamine (DHR) flow cytometry assay, and genetic testing.
Treatment:
Bone marrow transplantation (curative in some cases), prophylactic antibiotics and antifungals, and interferon-gamma therapy to boost immune response.
Medications:
Trimethoprim-sulfamethoxazole for bacterial infection prophylaxis; itraconazole or voriconazole for antifungal prophylaxis; interferon-gamma injections to enhance immune function.
Prevalence:
How common the health condition is within a specific population.
Affects approximately 1 in 200,000 live births worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked or autosomal recessive inheritance patterns; family history of CGD.
Prognosis:
The expected outcome or course of the condition over time.
Lifelong susceptibility to infections; improved survival with modern treatments but risk of chronic inflammatory complications.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic inflammation (leading to bowel strictures or obstructions), liver abscesses, and autoimmune-like symptoms.
Hyper-IgM Syndrome
Specialty: Genetics
Category: Immune and Hematologic Disorders
Sub-category: Immune Deficiencies
Symptoms:
recurrent respiratory and gastrointestinal infections; failure to thrive; enlarged lymph nodes; autoimmune conditions; opportunistic infections
Root Cause:
Mutations in genes affecting CD40-CD40L signaling, leading to defective immunoglobulin class switching and low IgA, IgG, and IgE levels with elevated IgM levels.
How it's Diagnosed: videos
Serum immunoglobulin levels (showing high IgM and low IgG, IgA, and IgE), genetic testing, and flow cytometry for CD40 ligand expression.
Treatment:
Immunoglobulin replacement therapy, prophylactic antibiotics to prevent infections, and bone marrow transplantation (potentially curative in severe cases).
Medications:
Intravenous immunoglobulin (IVIG) or subcutaneous immunoglobulin (SCIG) for antibody replacement; trimethoprim-sulfamethoxazole for Pneumocystis jirovecii prophylaxis; antifungals (e.g., fluconazole ) as needed.
Prevalence:
How common the health condition is within a specific population.
Estimated to affect 1 in 1,000,000 individuals worldwide.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
X-linked inheritance (most common type); family history of immunodeficiencies.
Prognosis:
The expected outcome or course of the condition over time.
Variable; severe infections and complications without treatment can reduce life expectancy, but prognosis improves significantly with immunoglobulin therapy and appropriate care.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Chronic liver disease, lymphoma, and severe opportunistic infections (e.g., Cryptosporidium leading to biliary tract complications).
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.