Overview
Definition
Autosomal dominant RBC membrane defect.
Epidemiology
Varies globally depending on genetics, environment, or exposure.
Etiology & Risk Factors
- Mutations in Spectrin, Ankyrin, or Band 3.
Clinical Symptoms
- Chronic hemolytic anemia
- jaundice
- splenomegaly
- pigment gallstones.
Clinical Approach
Diagnosis
- High MCHC
- negative DAT
- Osmotic fragility test
- Smear (spherocytes).
Management
- Folic acid
- Splenectomy (curative for anemia).
Complications
- Aplastic crisis (Parvovirus B19)
- Gallstones.