Higgs D R, Ayyub H, Clegg J B, Hill A V, Nicholls R D, Teal H, Wainscoat J S, Weatherall D J
Br Med J (Clin Res Ed). 1985 May 4;290(6478):1303-6. doi: 10.1136/bmj.290.6478.1303.
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.
尽管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也已被发现。对12名此类患者进行了研究，其中8人有一个独特的分子缺陷，这明显不同于在地中海或东南亚血统人群中所见的缺陷。因此，英国人群中存在一种罕见但特定形式的α地中海贫血。此外，还遇到了两名来自混合种族家庭的患者，他们因从英国一方父母遗传一种α地中海贫血形式，从外国一方父母遗传另一种类型，而患有中度严重形式的地中海贫血（血红蛋白H病）。这表明对有地中海贫血血液学检查结果的英国患者进行仔细的遗传咨询很重要。
