Mwakasungula Solomon, Schindler Tobias, Jongo Said, Moreno Elena, Kamaka Kasimu, Mohammed Mgeni, Joseph Selina, Rashid Ramla, Athuman Thabit, Tumbo Anneth Mwasi, Hamad Ali, Lweno Omar, Tanner Marcel, Shekalaghe Seif, Daubenberger Claudia A
Department of Medical Parasitology and Infection Biology, Swiss Tropical and Public Health Institute Socinstrasse 57, 4002 Basel, Switzerland ; University of Basel Basel, Petersplatz 1, CH-4003 Basel, Switzerland ; Ifakara Health Institute, Bagamoyo Research and Training Centre Bagamoyo, P.O. Box 74, Tanzania.
Department of Medical Parasitology and Infection Biology, Swiss Tropical and Public Health Institute Socinstrasse 57, 4002 Basel, Switzerland ; University of Basel Basel, Petersplatz 1, CH-4003 Basel, Switzerland.
Int J Mol Epidemiol Genet. 2014 Dec 15;5(4):185-94. eCollection 2014.
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.
血红蛋白病,即血红蛋白结构和生成方面的疾病,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,会导致红细胞对氧化应激的易感性增加。这些遗传性状在曾经或仍有疟疾存在的热带和亚热带地区人群中的分布,被认为是由于对严重威胁生命的疟疾具有生存优势。对居住在达累斯萨拉姆的384名坦桑尼亚男性志愿者进行了G6PD、镰状细胞病和α地中海贫血分型。最显著的红细胞多态性是杂合子α(+)地中海贫血(37.8%),其次是G6PD(A)缺乏症(16.4%)、杂合子镰状细胞性状(15.9%)、G6PD(A-)缺乏症(13.5%)和纯合子α(+)地中海贫血(5.2%)。这些志愿者中分别有35%、45%、17%和3%是野生型基因位点携带者、这些血红蛋白病中一种、两种或三种的携带者。我们发现,在该男性人群中,使用平均红细胞血红蛋白(MCH)28.6 pg的临界值,可以预测杂合子α(+)地中海贫血,敏感性为84%,特异性为72%。所有携带纯合子α(+)地中海贫血的受试者均根据其MCH值<28.6 pg得以识别。