National Institute of Immunohaematology (ICMR), KEM Hospital Campus, Parel, Mumbai, India.
Br J Haematol. 2010 Jun;149(5):739-47. doi: 10.1111/j.1365-2141.2010.08131.x. Epub 2010 Mar 3.
Although the average frequency of beta-thalassaemia carriers in India is 3-4% and the prevalent mutations have been studied, no micromapping has been done. This is the first attempt to provide an accurate estimate of the frequencies of beta-thalassaemia and the expected annual births of homozygous children in different districts of Maharashtra and Gujarat in Western India as well as to determine the molecular heterogeneity in different sub-regions in these states. A total of 18 651 individuals were screened for haemo-globinopathies and mutations were characterized in 1334 beta-thalassaemia heterozygotes. There was an uneven distribution of the frequencies of beta-thalassaemia, varying from 1.0% to 6.0% and 0% to 9.5% in different districts of Maharasthra and Gujarat. The rate of homozygosity per 1000 births annually was 0.28 in Maharashtra and 0.39 in Gujarat. The three most prevalent beta-thalassaemia mutations in Maharashtra were IVS 1-5(G-->C), Codon 15(G-->A) and Codon 30(G-->C) (87.9%) while in Gujarat they were IVS 1-5(G-->C), 619 bp deletion and Codon 5(-CT) (68.5%). These data will help to develop adequate programmes for control and care where they are most needed. They also emphasize the importance of subgroup micromapping for determining the health burden of a common genetic disease.
尽管印度β-地中海贫血携带者的平均频率为 3-4%，并且已经研究了常见的突变，但尚未进行微图谱分析。这是首次尝试在印度西部的马哈拉施特拉邦和古吉拉特邦的不同地区，提供β-地中海贫血的频率和预期的纯合子儿童出生的准确估计，以及确定这些州不同亚区的分子异质性。共对 18651 人进行了血红蛋白病筛查，并对 1334 名β-地中海贫血杂合子进行了突变特征分析。β-地中海贫血的频率分布不均匀，在马哈拉施特拉邦和古吉拉特邦的不同地区，频率从 1.0%到 6.0%不等，从 0%到 9.5%不等。每年每 1000 例出生的纯合子发生率在马哈拉施特拉邦为 0.28，在古吉拉特邦为 0.39。在马哈拉施特拉邦，三种最常见的β-地中海贫血突变是 IVS 1-5(G-->C)、密码子 15(G-->A)和密码子 30(G-->C)（87.9%），而在古吉拉特邦，它们是 IVS 1-5(G-->C)、619bp 缺失和密码子 5(-CT)（68.5%）。这些数据将有助于在最需要的地方制定适当的控制和护理计划。它们还强调了进行亚组微图谱分析对于确定常见遗传病的健康负担的重要性。
