G6PD deficiency
| Mediterranean and Asian genetics | |
|---|---|
| Etiology | X linked recessive inheritance. Most common RBC enzyme defect. Protective against malaria. |
| Epidemiology | |
| Clinical presentation | gallstones, splenomegaly |
| Pathogenesis | ↓ G6PD = ↓ glutathione = ↑ susceptibility to oxidative stress |
| Diagnostic investigations | FBC: intravascular haemolysis Blood film: Heinz bodies (due to oxidative damage), bite cells (damaged cells are less flexible) |
| Management |
drugs to avoid
- anti-malarials: primaquine
- ciprofloxacin
- sulph- group drugs: sulphonamides, sulphasalazine, sulfonylureas
- dapsone