G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews

Ariella Oppenheim*, Corrine L. Jury, Deborah Rund, Tom J. Vulliamy, Lucio Luzzatto

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

Abstract

The Jews of Kurdistan are a small inbred population with a high incidence of β-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the β-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identified, of which 4 had not previously been observed in any other population. In contrast, we now report that the G6PD deficiency, which has the highest known incidence in the world, and which affects about 70% of males, is almost entirely attributable to a single widespread mutation, G6PD Mediterranean.

Original languageEnglish
Pages (from-to)293-294
Number of pages2
JournalHuman Genetics
Volume91
Issue number3
DOIs
StatePublished - Apr 1993
Externally publishedYes

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