Glucose-6-phosphate dehydrogenase deficiency

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited (X-linked) enzyme deficiency that is common among populations originating from parts of the world where malaria is or was common: that is, sub-Saharan Africa, Asia, the Mediterranean region, and the Middle East.

Most patients are asymptomatic.

Most common manifestations are prolonged or severe neonatal jaundice and haemolytic anaemia in association with infection or following consumption of broad beans or certain drugs.

Diagnosis is made from blood tests including smear review and the specific enzyme assay.

Patients should be advised to avoid precipitant factors, especially oxidative drugs and broad beans.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition in which patients are excessively susceptible to the development of haemolytic anaemia. Affected people lack the ability to tolerate biochemical oxidative stress, and red cell haemolysis is the most important clinical consequence. Almost all patients are completely asymptomatic. However, infections, drugs, or ingesting broad beans can precipitate haemolysis. Newborns may have prolonged and/or severe neonatal hyperbilirubinaemia.