Alpha thalassaemia in British people.
Alpha thalassaemia in British people.
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英国人患有阿尔法地中海贫血。
DOI：
10.1136/bmj.290.6478.1303
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发表时间：
1985
影响因子：
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通讯作者：
nn
中科院分区：
文献类型：
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作者：
D. Higgs;H. Ayyub;D. Weatherall;J. Clegg;A. Hill;R. Nicholls;H. Teal;J. Wainscoat;B. Carr;I. Temperley;St James 's Hospital;Dublin;J. W. Culver;R. Jones;Alexandra Hospital;Raf Wroughton;Wiltshire Swindon;Oqj Sn;D. W. Gorst;P. J. Hind;Royal Infirmary;Lancaster Lal;rp;H. O 'brien;Cumberland Infirmary;Cumbria Carlisle;hy Caq;J. Maclver;N. Edwards;Royal Infirmary;Manchester M;wl;E. Letskv;Queen Charlotte;Albert Edward Infirmary;Wigan Wn;nn
虽然α地中海贫血在北欧人中很罕见，但在没有已知外国血统的英国人中已被发现。对12名这样的患者进行了研究，其中8名具有独特的分子缺陷，这与地中海或东南亚血统的受试者中观察到的缺陷明显不同。因此，一种罕见但特殊的α地中海贫血病存在于英国人口中。此外，还遇到了两名来自混合种族家庭的患者，他们患有中重度地中海贫血（HbH病），这是由于一种α地中海贫血遗传自英国父母，另一种类型遗传自外国父母。这表明，对血液学检查结果为地中海贫血的英国患者进行仔细的遗传咨询非常重要。
Although alpha thalassaemia is rare in north Europeans, it has been identified in British people with no known foreign ancestry. Twelve such patients were studied, of whom eight shared a distinctive molecular defect, which was clearly different from defects seen in subjects of Mediterranean or South East Asian origin. A rare but specific form of alpha thalassaemia is therefore present in the British population. In addition, two patients from families of mixed racial origin were encountered who had a moderately severe form of thalassaemia (HbH disease) due to the inheritance of one form of alpha thalassaemia from the British parent and another type from the foreign parent. This shows the importance of careful genetic counselling of British patients with haematological findings of thalassaemia.