- Autosomal recessive hemolytic anemia characterized by reduced activity of one of the two red blood cell (RBC) isoforms of the PK enzyme, which is encoded by the PKLR gene
- Decreased RBC deformability
- Splenectomy if transfusion-dependent anemia
- Ideally, deferred until later childhood and preceded by indicated vaccinations
- Cholecystectomy may be required for pigment gallstones.
- Iron chelation may be needed to prevent or treat iron overload