Etiology:
Autosomal dominant mutation in genes encoding cytoskeletal proteins (mainly spectrin)
Commonly seen in African and Mediterranean populations
Defective spectrin leads to decreased RBC deformability
- Pathogenesis:
RBCs lose elasticity, becoming elliptical
Increased splenic sequestration → chronic hemolysis
Mild to moderate anemia, severity varies
- Clinical Features:
Asymptomatic in most cases
Mild hemolysis: Jaundice, fatigue, mild anemia
Splenomegaly in severe cases
Gallstones due to chronic hemolysis
- Treatment:
Mild cases: No treatment needed
Severe cases: Splenectomy can reduce hemolysis
Folic acid supplementation to support erythropoiesis