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

The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identifie...

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Veröffentlicht in:	Human genetics 1993-04, Vol.91 (3), p.293-294
Hauptverfasser:	OPPENHEIM, A, JURY, C. L, RUND, D, VULLIAMY, T. J, LUZZATTO, L
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemias. Hemoglobinopathies beta-Thalassemia - genetics Biological and medical sciences deficiency Diseases of red blood cells Female glucose-6-phosphate dehydrogenase Glucosephosphate Dehydrogenase Deficiency - epidemiology Glucosephosphate Dehydrogenase Deficiency - genetics Hematologic and hematopoietic diseases Humans Incidence Israel - epidemiology Jews - genetics Male man Medical sciences Mutation Polymerase Chain Reaction Prevalence thalassemia
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container_title	Human genetics
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description	The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-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.
doi_str_mv	10.1007/BF00218277
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Hemoglobinopathies</subject><subject>beta-Thalassemia - genetics</subject><subject>Biological and medical sciences</subject><subject>deficiency</subject><subject>Diseases of red blood cells</subject><subject>Female</subject><subject>glucose-6-phosphate dehydrogenase</subject><subject>Glucosephosphate Dehydrogenase Deficiency - epidemiology</subject><subject>Glucosephosphate Dehydrogenase Deficiency - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Humans</subject><subject>Incidence</subject><subject>Israel - epidemiology</subject><subject>Jews - genetics</subject><subject>Male</subject><subject>man</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Prevalence</subject><subject>thalassemia</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkLtPwzAQxi0EKuWxsCN5QAxIAb8dj1BoeRTBULFGjuNQozQpdgLqf49LozIyne6-3326-wA4wegSIySvbsYIEZwSKXfAEDNKEkwQ3QVDRBlKhMRyHxyE8IEQ5orwARikTKaxGYK3iXi9hc-2cK31XtdW11Ab03R1G2DZeNjOLZy79zlcevulK1sbC5sS_q4VtnTGxdEKuho-db5wYQ4f7Xc4AnulroI97ushmI3vZqP7ZPoyeRhdTxNDGWkTLhQTpWZUEk600YZyLhFhihQp0oYTJTjiynCaslyJkhsrci15SlQu46OH4Hxju_TNZ2dDmy1cMLaq4iNNFzK5dqNS_QtiEU_hjETwYgMa34TgbZktvVtov8owytZhZ39hR_i0d-3yhS22aJ9u1M96XQejqzLma1zYYkwiyZSkPxNOgwc</recordid><startdate>19930401</startdate><enddate>19930401</enddate><creator>OPPENHEIM, A</creator><creator>JURY, C. 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source	MEDLINE; Springer Nature - Complete Springer Journals
subjects	Anemias. Hemoglobinopathies beta-Thalassemia - genetics Biological and medical sciences deficiency Diseases of red blood cells Female glucose-6-phosphate dehydrogenase Glucosephosphate Dehydrogenase Deficiency - epidemiology Glucosephosphate Dehydrogenase Deficiency - genetics Hematologic and hematopoietic diseases Humans Incidence Israel - epidemiology Jews - genetics Male man Medical sciences Mutation Polymerase Chain Reaction Prevalence thalassemia
title	G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews
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