Glucose-6-phosphate dehydrogenase deficiency

MD Cappellini, G. Fiorelli

Research output: Contribution to journalArticle

711 Citations (Scopus)

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400 million people worldwide. The global distribution of this disorder is remarkably similar to that of malaria, lending support to the so-called malaria protection hypothesis. G6PD deficiency is an X-linked, hereditary genetic defect due to mutations in the G6PD gene, which cause functional variants with many biochemical and clinical phenotypes. About 140 mutations have been described: most are single base changes, leading to aminoacid substitutions. The most frequent clinical manifestations of G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Some G6PD variants cause chronic haemolysis, leading to congenital non-spherocytic haemolytic anaemia. The most effective management of G6PD deficiency is to prevent haemolysis by avoiding oxidative stress. Screening programmes for the disorder are undertaken, depending on the prevalence of G6PD deficiency in a particular community.

Original languageEnglish
Pages (from-to)64-74
Number of pages11
JournalLancet
Volume371
Issue number9606
DOIs
Publication statusPublished - Jan 5 2008

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Glucosephosphate Dehydrogenase Deficiency
Glucosephosphate Dehydrogenase
Hemolysis
Malaria
Neonatal Jaundice
Mutation
Hemolytic Anemia
Oxidative Stress
Phenotype
Enzymes
Genes

ASJC Scopus subject areas

  • Medicine(all)

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Glucose-6-phosphate dehydrogenase deficiency. / Cappellini, MD; Fiorelli, G.

In: Lancet, Vol. 371, No. 9606, 05.01.2008, p. 64-74.

Research output: Contribution to journalArticle

Cappellini, MD ; Fiorelli, G. / Glucose-6-phosphate dehydrogenase deficiency. In: Lancet. 2008 ; Vol. 371, No. 9606. pp. 64-74.
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