Ahmed S, Petrou M, Saleem M
Armed Forces Institute of Pathology, Rawalpindi, Pakistan.
Br J Haematol. 1996 Sep;94(3):476-82.
Thalassaemia is the most common inherited disorder in Pakistan and there are very inadequate treatment facilities for over 4000 homozygotes born each year. Prevention of these disorders therefore forms an essential part of the management of this enormous health problem. We have characterized 1216 beta-thalassaemia alleles from the five major ethnic groups of Pakistan. The complete spectrum comprised 19 different mutations. There are important ethnic and regional differences in the prevalence of mutations. The five most common mutations, IVSI-5 (G-C) (37.3%), Fr 8-9 (+G) (25.9%), del 619 (7.0%), Fr 41-42 (-TTCT) (6.7%) and IVSI-1 (G-T) (5.4%), constitute 82.3% of the total. Fr 8-9 (+G) is the most common mutation in Northern Pakistan (41.3%), whereas IVSI-5 (G-C) is the most frequent mutation in Southern Pakistan (52.2%). Six subjects with transfusion-dependent thalassaemia major showed only a single mutant allele. One subject with transfusion-dependent thalassaemia major showed a novel 17 bp deletion involving Cd126-131. Our findings provide a comprehensive basis for carrying out prenatal diagnosis of thalassaemia in a geographical area where it is found in high frequency.
地中海贫血是巴基斯坦最常见的遗传性疾病，对于每年出生的4000多名纯合子患者，治疗设施极为匮乏。因此，预防这些疾病是应对这一重大健康问题的重要组成部分。我们对来自巴基斯坦五个主要民族的1216个β地中海贫血等位基因进行了特征分析。完整的谱系包含19种不同的突变。突变的流行率存在重要的民族和地区差异。五种最常见的突变，IVSI-5（G-C）（37.3%）、Fr 8-9（+G）（25.9%）、del 619（7.0%）、Fr 41-42（-TTCT）（6.7%）和IVSI-1（G-T）（5.4%），占总数的82.3%。Fr 8-9（+G）是巴基斯坦北部最常见的突变（41.3%），而IVSI-5（G-C）是巴基斯坦南部最常见的突变（52.2%）。六名依赖输血的重型地中海贫血患者仅显示一个突变等位基因。一名依赖输血的重型地中海贫血患者显示出一种涉及Cd126-131的新的17bp缺失。我们的研究结果为在一个高发病率的地理区域开展地中海贫血的产前诊断提供了全面的依据。
