Overview
Definition
Severe hereditary anemia due to absent or decreased beta-globin chain synthesis.
Epidemiology
Endemic in Mediterranean, Middle Eastern, and Asian populations.
Etiology & Risk Factors
- Mutations in the HBB gene
Clinical Symptoms
- Severe anemia in infancy
- Hepatomegaly
- Chipmunk facies (extramedullary hematopoiesis)
Clinical Approach
Diagnosis
- Hemoglobin electrophoresis (absent HbA, increased HbF/HbA2)
- Smear: Target cells
Management
- Chronic lifelong blood transfusions
- Iron chelation therapy (Deferoxamine)
- Bone marrow transplant
Complications
- Iron overload (hemochromatosis)
- Heart failure
- Liver cirrhosis