G-6-PD deficiency

Last updated: Friday, 06, August, 2010
Key InformationAppropriate Tests

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 racial origins. Haemolysis is usually episodic, but may be chronic with some G-6-PD variants.

FBC, Heinz body preparation when active haemolysis suspected.

FBC, blood film; glucose-6-phosphate dehydrogenase (red cell) - semiquantitative 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.