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 working on 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 disorder with high prevalence particularly in people of African, Asian, and Mediterranean descent. G6PD deficiency is polymorphic, with more than 400 variants.

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

The clinical presentation of glucose-6-phosphate dehydrogenase (G6PD) deficiency includes a spectrum of hemolytic anemia ranging from mild to severe hemolysis in response to oxidative stress. The likelihood of developing hemolysis and its severity depends on the level of the enzyme deficiency, which in turn depends on the G6PD variant. [4, 5]


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