Synopsis
Recognise inherited vulnerability to oxidative haemolysis, remove precipitating infections, foods and medicines, interpret enzyme testing at the correct time and prevent recurrent and neonatal harm.
- G6PD deficiency is an X-linked red-cell enzyme disorder that impairs NADPH and reduced-glutathione defence; heterozygous females can be clinically affected because X-chromosome inactivation is variable.
- Many people are asymptomatic between episodes. Infection, fava beans and specific oxidant medicines cause abrupt jaundice, dark urine, pallor, fatigue, abdominal or back pain and falling haemoglobin.
- The film may show bite cells and blister cells after splenic removal of Heinz-body-containing membrane; supravital staining detects Heinz bodies but is timing dependent and specialist led.
Key red flags
Jaundice, pallor, dark urine, fatigue and back or abdominal pain beginning after infection, fava beans or a recognised medicine suggests triggered haemolysis.
Investigation priorities
Quantify severity, trajectory and marrow compensation.
Management branches
Dark urine, jaundice and falling haemoglobin occur during infection or after a plausible food, medicine or chemical exposure.
- Stop the suspected trigger, treat infection promptly, use ABCDE and obtain FBC, reticulocytes, film, bilirubin, LDH, haptoglobin, DAT, renal profile, potassium, urinalysis and group and screen.
- First-line care is supportive hydration and renal, urine-output and oxygen-delivery monitoring; red-cell transfusion is the preferred escalation for clinically important symptomatic anaemia rather than a fixed universal number.
Key medicines
RasburicaseDo not administer to a patient with confirmed G6PD deficiency; use the tumour-lysis protocol's supported alternative and specialist metabolic monitoring instead.
Folic acid for chronic haemolysisA specialist may prescribe 5 mg by mouth once daily when a chronic haemolytic variant creates sustained increased folate requirement; review duration regularly.