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Pathology
Defective enzyme causes red cell membrane to be damaged by oxidative stress, usually infections or drugs. Abnormal cells are destroyed in the spleen
Aetiology
X- linked inheritance
Signs
None, in steady state, pallor, jaundice on exposure to oxidants or infection
Symptoms
None, fatigue, abdominal pain, discoloured urine
Investigations
Bloods: FBC - Reticulocytosis, LFTs – increased unconjugated bilirubin,
decreased haptoglobin
MSU: Increased urinary bilinogen
Blood film: Spherocytes, irregularly contracted red cells, red cell fragments,
Heinz bodies.
Treatment
Conservative: Avoid all drugs associated with oxidative haemolysis
Medical: Blood transfusion, IV fluids, folic acid and exchange transfusion in
neonates
Prognosis
Good
Kernicterus in the neonate
Key Facts
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Key References
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