G-6-PD deficiency

Keywords: Glucose-6-phosphate dehydrogenase deficiency, Favism

Key Information

Appropriate Tests

G6PD is an X-linked enzymatic disorder of red cells.

Associated with oxidative haemolysis, which is usually episodic associated with a precipitating factor, but may be chronic with some G-6-PD variants

The A- variant is common in individuals of African descent and is associated with mild haemolysis with stress, eg, intercurrent infection, oxidant drugs (especially primaquine).

The Mediterranean variant may be associated with neonatal jaundice and favism - severe haemolysis on exposure to broad beans, Vicia faba. G-6-PD deficiency is also common in individuals of Asian descent.

Clinical assessment, including family history (X-linked inheritance) and ethnic origins.

Full blood count, Reticulocyte count, haemolysis indicesHeinz body preparation when active haemolysis suspected.

Full blood count, Blood film, Reticulocyte count, G-6-PD (red cell) - semi quantitative tests and enzyme assay.

NB Enzyme levels may be elevated due to reticulocytosis after an acute haemolytic episode. Repeat assay may be indicated after haemolysis has ceased.

See also Haemolysis.