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Hematol Oncol Clin North Am. 2016 Apr;30(2):373-93. doi: 10.1016/j.hoc.2015.11.006.

Glucose-6-Phosphate Dehydrogenase Deficiency.

Author information

1
Scientific Direction, Istituto Toscano Tumori, Viale Pieraccini 6, Florence 50139, Italy; University of Florence, Florence, Italy. Electronic address: lluzzatto@blood.ac.tz.
2
Core Research Laboratory-Istituto Toscano Tumori, Azienda Universitaria-Ospedaliera Careggi, Viale Pieraccini 6, Florence 50139, Italy.

Abstract

G6PD is a housekeeping gene expressed in all cells. Glucose-6-phosphate dehydrogenase (G6PD) is part of the pentose phosphate pathway, and its main physiologic role is to provide NADPH. G6PD deficiency, one of the commonest inherited enzyme abnormalities in humans, arises through one of many possible mutations, most of which reduce the stability of the enzyme and its level as red cells age. G6PD-deficient persons are mostly asymptomatic, but they can develop severe jaundice during the neonatal period and acute hemolytic anemia when they ingest fava beans or when they are exposed to certain infections or drugs. G6PD deficiency is a global health issue.

KEYWORDS:

Favism; Glucose-6-phosphate dehydrogenase; Hemolytic anemia; Malaria selection; X-linked genetic polymorphism

PMID:
27040960
DOI:
10.1016/j.hoc.2015.11.006
[Indexed for MEDLINE]

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