Thalassemia among the tribal communities of India

M. Sengupta
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引用次数: 30

Abstract

Though the tribal communities constitute a major part of India, unfortunately they are highly vulnerable to many hereditary disorders causing high degree of morbidity and mortality. To map out thalassemia among the Indian tribes, an extensive review study was conducted from the literature published since last 20 years. Literature review shows that thalassemia and other haemoglobinopathies are highly prevalent (0.028-18%) among the tribal communities. Some types of deleterious mutation are restricted to some particular tribes. Such as tribes of Maharastrya and Gujrat have shown prevalence of 619bp deletion mutations in 49.2% and 45.5% carriers, respectively. HbS (codon 6A→T) mutant allele is widespread among many Indian tribes. HbE mutation among the Bodo Kachari of Assam is found to be the highest observed frequency in the world followed by the tribes of adjoining Tripura. The evidence of the hereditary persistence of rare HbF is also prevalent among the Indian tribes. In case of Gond in Central India, HbF levels varied as much as 42.55% with high G-gamma values. Since last 20 years the high frequencies of these mutant alleles is maintained by the tribal populations probably due to consanguinity and endogamous mating for a long period of time, along with ignorance, lack of awareness and conveyance, lowincome status and high cost of treatment make them vulnerable. Thus, action like community awareness, screening of carriers, establishment of prenatal diagnosis facilities, optimum treatment of thalassemia babies etc. should be taken immediately.
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印度部落社区的地中海贫血症
虽然部落社区是印度的主要组成部分,但不幸的是,他们极易受到许多遗传性疾病的影响,造成很高的发病率和死亡率。为了了解地中海贫血在印第安部落中的分布,我们对近20年来发表的文献进行了广泛的回顾研究。文献综述显示,地中海贫血和其他血红蛋白病在部落社区中非常普遍(0.028-18%)。某些类型的有害突变仅限于某些特定的部落。例如,马哈拉施特拉邦和古吉拉特邦的部落分别在49.2%和45.5%的携带者中显示出619bp缺失突变的患病率。HbS(密码子6A→T)突变等位基因广泛存在于许多印第安部落中。阿萨姆邦的Bodo Kachari人的HbE突变被发现是世界上观察到的频率最高的,其次是毗邻的特里普拉部落。罕见乙型肝炎遗传持久性的证据在印第安部落中也很普遍。在印度中部的Gond病例中,HbF水平随高g - γ值变化高达42.55%。近20年来,这些突变等位基因的高频率在部落人群中保持,可能是由于长期的近亲和内婚交配,以及无知,缺乏意识和传播,低收入地位和高昂的治疗费用使他们变得脆弱。因此,应立即采取提高社区意识、筛查携带者、建立产前诊断设施、对地中海贫血婴儿进行最佳治疗等行动。
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