Pathology
Defective enzyme activity is the cause of red cell membrane damage due to oxidative stress, which most commonly results from infections or drugs. The abnormal cells are then destroyed in the spleen.
Aetiology
The condition is known to exhibit X-linked inheritance.
Symptoms
- No symptoms
- Fatigue
- Abdominal pain
- Discoloured urine
Signs
- No signs in the steady state
- Pallor
- Jaundice on exposure to oxidants or infection
Investigations
- Bloods: FBC – Reticulocytosis, LFTs – increased unconjugated bilirubin, decreased haptoglobin
- MSU: Increased urinary bilinogen
- Bloodfilm: Spherocytes, irregularly contracted red cells, red cell fragments, Heinzbodies
Treatment
- Conservative: Avoid all drugs associated with oxidative haemolysis
- Medical: Blood transfusion, IV fluids, folic acid and exchange transfusion in neonates
Complications
Kernicterus in the neonate.
Prognosis
Good.
