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开普敦希腊社区的遗传性贫血

Inherited anaemias in the Greek community of Cape Town.

作者信息

Bonafede R P, Botha M C, Beighton P

出版信息

J Med Genet. 1979 Jun;16(3):197-200. doi: 10.1136/jmg.16.3.197.

Abstract

Cape Town has a Greek community of about 5000, of whom approximately 75% originate from the island of Lesbos. In a survey of inherited haematological conditions in this population, 250 unrelated volunteers were investigated. The prevalence of heterozygous beta-thalassaemia was found to be 6.4%, with a gene frequency of 0.033. G6PD deficiency was detected in 10 males and it can be estimated that the prevalence in the male members of this population is 6.7%, with a gene frequency of 0.067. Hereditary spherocytosis was found in three respondents and this represents a prevalence of 1.2%, with a gene frequency of 0.006. One subject was heterozygous for the sickle cell trait (HbS) and another volunteer had haemoglobin Lepore, which had already been diagnosed in Greece. Our findings with respect to beta-thalassaemia and G6PD deficiency are similar to those reported from regions in Greece where malaria is not highly endemic.

摘要

开普敦有一个约5000人的希腊社区,其中约75%来自莱斯博斯岛。在对该人群遗传性血液疾病的一项调查中,对250名无亲属关系的志愿者进行了研究。发现杂合子β地中海贫血的患病率为6.4%,基因频率为0.033。在10名男性中检测到葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症,可以估计该人群男性成员中的患病率为6.7%,基因频率为0.067。在三名受访者中发现了遗传性球形红细胞增多症,患病率为1.2%,基因频率为0.006。一名受试者为镰状细胞性状(HbS)的杂合子,另一名志愿者患有血红蛋白Lepore,这在希腊已被诊断出。我们关于β地中海贫血和G6PD缺乏症的研究结果与希腊疟疾非高度流行地区报道的结果相似。

相似文献

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Inherited anaemias in the Greek community of Cape Town.开普敦希腊社区的遗传性贫血
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本文引用的文献

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Arch Biochem Biophys. 1953 Nov;47(1):148-59. doi: 10.1016/0003-9861(53)90444-5.
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Antenatal diagnosis of thalassaemia major.重型地中海贫血的产前诊断。
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