达累斯萨拉姆坦桑尼亚男性居民的红细胞指数、血红蛋白病和葡萄糖-磷酸脱氢酶缺乏症的患病率

International journal of molecular epidemiology and genetics Pub Date : 2014-12-15 eCollection Date: 2014-01-01
Solomon Mwakasungula, Tobias Schindler, Said Jongo, Elena Moreno, Kasimu Kamaka, Mgeni Mohammed, Selina Joseph, Ramla Rashid, Thabit Athuman, Anneth Mwasi Tumbo, Ali Hamad, Omar Lweno, Marcel Tanner, Seif Shekalaghe, Claudia A Daubenberger
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引用次数: 0

摘要

血红蛋白病,即血红蛋白结构和生成的紊乱,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,导致红细胞氧应激敏感性增加。这些遗传特征在曾经或仍然存在疟疾的热带和亚热带地区的人口中分布,被认为是由于在对抗严重威胁生命的疟疾方面的生存优势。对居住在坦桑尼亚达累斯萨拉姆的384名男性志愿者进行了G6PD、镰状细胞病和α-地中海贫血的分型。红细胞多态性最显著的是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%)。这些志愿者中分别有35%、45%、17%和3%的人携带野生型基因位点,分别是一种、两种或三种血红蛋白病。我们发现,使用平均红细胞血红蛋白(MCH)的截断值为28.6 pg.,在该男性人群中,杂合α(+)-地中海贫血的预测灵敏度为84%,特异性为72%。所有携带纯合子α(+)-地中海贫血的受试者根据其MCH值< 28.6 pg进行鉴定。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam.

Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam.

Red blood cell indices and prevalence of hemoglobinopathies and glucose 6 phosphate dehydrogenase deficiencies in male Tanzanian residents of Dar es Salaam.

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.

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