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.
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Oppenheim, A., Jury, C.L., Rund, D. et al. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. Hum Genet 91, 293–294 (1993). https://doi.org/10.1007/BF00218277
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DOI: https://doi.org/10.1007/BF00218277