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首页> 外文期刊>International Journal of Molecular Epidemiology and Genetics >Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam
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Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam

机译：坦桑尼亚达累斯萨拉姆男性居民的红细胞指数和血红蛋白病患病率以及6磷酸葡萄糖脱氢酶缺乏症

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Hemoglobinopathies, disorders of hemoglobin structure and production, are one of the most common monogenic disorders in humans. Glucose 6 phosphate dehydrogenase deficiency (G6PD) is an inherited enzymopathy resulting in increased oxygen stress susceptibility of red blood cells. The distributions of these genetic traits in populations living in tropical and subtropical regions where malaria has been or is still present are thought to result from survival advantage against severe life threatening malaria disease. 384 male Tanzanian volunteers residing in Dar es Salaam were typed for G6PD, sickle cell disease and α-thalassemia. The most prominent red blood cell polymorphism was heterozygous α+-thalassemia (37.8%), followed by the G6PD(A) deficiency (16.4%), heterozygous sickle cell trait (15.9%), G6PD(A-) deficiency (13.5%) and homozygous α+-thalassemia (5.2%). 35%, 45%, 17% and 3% of these volunteers were carriers of wild type gene loci, one, two or three of these hemoglobinopathies, respectively. We find that using a cut off value of 28.6 pg. for mean corpuscular hemoglobin (MCH), heterozygous α+-thalassemia can be predicted with a sensitivity of 84% and specificity of 72% in this male population. All subjects carrying homozygous α+-thalassemia were identified based on their MCH value < 28.6 pg.
机译：血红蛋白病是血红蛋白结构和产生的疾病，是人类最常见的单基因疾病之一。葡萄糖6磷酸脱氢酶缺乏症（G6PD）是一种遗传性酶病，导致红细胞的氧应激敏感性增加。这些遗传性状在生活有或仍存在疟疾的热带和亚热带地区的人群中的分布被认为是由于抗击严重威胁生命的疟疾的生存优势所致。居住在达累斯萨拉姆的384名坦桑尼亚男性男性志愿者被分类输入G6PD，镰状细胞病和α地中海贫血。最突出的红细胞多态性是杂合性α+地中海贫血（37.8％），其次是G6PD（A）缺乏症（16.4％），杂合镰状细胞性状（15.9％），G6PD（A-）缺乏症（13.5％）和纯合α+地中海贫血（5.2％）。这些志愿者中有35％，45％，17％和3％是野生型基因位点的携带者，分别是其中的一种，两种或三种血红蛋白病。我们发现使用28.6 pg的截止值。对于平均红细胞血红蛋白（MCH），在该男性人群中可以预测杂合性α+地中海贫血的敏感性为84％，特异性为72％。根据其MCH值<28.6 pg确定所有携带纯合α+地中海贫血的受试者。

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