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 hemolytic anemia 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 hemolytic anemia. Affected people lack the ability to tolerate biochemical oxidative stress, and red cell hemolysis is the most important clinical consequence. Almost all patients are completely asymptomatic. However, infections, drugs, or ingesting broad beans can precipitate hemolysis. Newborns may have prolonged and/or severe neonatal hyperbilirubinemia.
History and exam
Key diagnostic factors
- at-risk demographic
- positive family history
- history of infection or exposure to oxidative drugs or broad (fava) beans
- dark urine
Other diagnostic factors
- male sex
- ethnic origin in the Mediterranean, sub-Saharan Africa, Middle East, or Southeast Asia
- family history
- recent exposure to oxidative drugs
- recent exposure to broad beans (favism)
1st investigations to order
- reticulocyte count
- unconjugated (indirect) bilirubin
- peripheral blood smear
Investigations to consider
- G6PD fluorescent spot test
- G6PD spectrophotometry
- molecular analysis
- point of care testing
neonates with prolonged indirect hyperbilirubinemia
chronic nonspherocytic hemolytic anemia
- Sickle cell disease
- Autoimmune hemolytic anemia
- Isoimmune hemolytic anemia: for example, ABO incompatibility
- Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline
- Guide to G6PD deficiency rapid diagnostic testing to support P. vivax radical cure
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