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一个匈牙利家庭中的血红蛋白O阿拉伯型、β地中海贫血和葡萄糖-6-磷酸脱氢酶缺乏症

Haemoglobin O Arab, beta-thalassaemia and glucose-6-phosphate dehydrogenase deficiency in a Hungarian family.

作者信息

Horányi M, Szelényi J, Rona G, Lang A, Lehmann H, Hollán S R

出版信息

Folia Haematol Int Mag Klin Morphol Blutforsch. 1980;107(4):654-60.

PMID:6162733
Abstract

A 29-year-old Hungarian woman was found to be double heterozygote for Hb O Arab and beta-thalassaemia. Haemolytic anaemia became manifest during her second pregnancy. In the course of genetic studies G-6-PD deficiency was also detected in the family. The patient originates from a North-Eastern part of Hungary which had been hydrogeologically isolated during past centuries.

摘要

一名29岁的匈牙利女性被发现为Hb O阿拉伯型和β地中海贫血的双重杂合子。溶血性贫血在她第二次怀孕期间显现出来。在基因研究过程中,该家族中还检测出葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症。患者来自匈牙利东北部,在过去几个世纪里该地区在水文地质上处于隔离状态。

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引用本文的文献

1
Molecular characterization of beta-thalassemia in Hungary.匈牙利β地中海贫血的分子特征
Hum Genet. 1993 Oct;92(4):385-7. doi: 10.1007/BF01247340.