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Glucose-6-phosphate dehydrogenase deficiency

23 Jul 2020

Abstract excerpt

Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest human enzymopathies, caused by inherited mutations of the X-linked gene G6PD. G6PD deficiency makes red cells highly vulnerable to oxidative damage, and therefore susceptible to hemolysis. Over 200 G6PD mutations are known: approximately one-half are polymorphic and therefore common in various populations. Some 500 million persons with any...

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PMID: 32702756
DOI: 10.1182/blood.2019000944

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