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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 Images

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Key References

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