阿曼人群中红细胞基因异常的频率及临床意义
Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis.
作者信息
White J M, Christie B S, Nam D, Daar S, Higgs D R
机构信息
Department of Haematology, Sultan Qaboos University, Al Khod, Muscat, Sultanate of Oman.
出版信息
J Med Genet. 1993 May;30(5):396-400. doi: 10.1136/jmg.30.5.396.
Abstract
The frequencies of four malaria associated erythrocyte genetic abnormalities have been established in 1000 Omani subjects. They are: homozygous alpha+ thalassaemia (-alpha/-alpha) 0.45; high Hb A2 beta thalassaemia trait 0.015; sickle trait (Hb A/S) 0.061; and glucose 6 phosphate dehydrogenase deficiency (Gd-): males 0.27, females 0.11. From our data the alpha+ (-alpha/) thal gene (confirmed by Southern blotting) is pandemic in this population. Moreover, in spite of the very high frequency of Gd-, oxidative haemolytic syndromes are very uncommon. Also preliminary data indicate that among the Omani population with sickle cell disease, homozygosity of the alpha+ gene markedly modifies the clinical picture.
摘要
已在1000名阿曼受试者中确定了四种与疟疾相关的红细胞遗传异常的频率。它们分别是：纯合子α+地中海贫血（-α/-α）0.45；高Hb A2β地中海贫血性状0.015；镰状性状（Hb A/S）0.061；以及葡萄糖6磷酸脱氢酶缺乏症（Gd-）：男性为0.27，女性为0.11。根据我们的数据，α+（-α/）thal基因（经Southern印迹法证实）在该人群中广泛流行。此外，尽管Gd-的频率非常高，但氧化性溶血性综合征却非常罕见。初步数据还表明，在患有镰状细胞病的阿曼人群中，α+基因的纯合性会显著改变临床症状。
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