What is glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Updated: Jun 25, 2020
  • Author: Lawrence C Wolfe, MD; Chief Editor: George T Griffing, MD  more...
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Answer

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells, affecting 400 million people worldwide. [1] Paul Carlson and colleagues first reported G6PD deficiency in 1956 while treating a patient previously identified as "primaquine sensitive." [2]

G6PD is an enzyme involved in the pentose monophosphate pathway. G6PD deficiency leads to free radical–mediated oxidative damage to red blood cells, which in turn causes hemolysis. [3] It is an X-linked recessive disorder, and thus more often affects males. G6PD deficiency has a high prevalence in people of African, Asian, and Mediterranean descent. The condition is polymorphic, with more than 400 variants.

Patients with G6PD-deficient alleles have a selective advantage against severe malaria; hence, G6PD deficiency is highly prevalent in populations where malaria is endemic.


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