- Most common congenital haemolytic anaemia
Cause
- Variants in genes that encode proteins of the red blood cell (RBC) membrane skeleton
- Most common Spectrin (SPTA1 and SPTB genes)
- Get spherical, rigid, fragile RBC,
- Autosomal Dominant susceptibility in 75%
- Triggered by viral illness
- Clinical Presentation
- Anaemia, jaundice, splenomegaly
- Investigation
- Coombs negative (not autoimmune, negative antibodies),
- Get spherocytes & reticulocytes on blood film
- Management
- Splenectomy, should delay if possible till >6yrs age to allow immune system to mature
- High incidence of gallstones due to haemolysis, consider cholecystectomy if present