Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
复制标题
广西壮族自治区血红蛋白病分子流行病学调查
DOI：
10.1111/j.1399-0004.2010.01430.x
复制
发表时间：
2010-08-01
影响因子：
3.5
通讯作者：
Xu, X.
中科院分区：
文献类型：
--
作者：
Xiong, F.;Sun, M.;Xu, X.
需要关于中国血红蛋白病最流行的广西壮族自治区人群中血红蛋白病频率的准确和最新数据。本研究对广西6个地理区域的汉族、张族和瑶族的5789份样本进行血液学和分子参数的系统分析。结果表明，地中海贫血和其他血红蛋白病的总杂合子频率为24.51%，其中α -地中海贫血占17.55%，β -地中海贫血占6.43%，结构性血红蛋白变异占0.38%，o -地中海贫血占0.16%。描述了每种疾病在当地人群中的突变谱，包括首次报道了三种沉默型地中海贫血缺陷的真实患病率，- α (3.7)/(4.78%), - α(4.2)/(1.61%)和Hb Westmead (α (WS) α /)(1.57%)，以及中国个体中从未发现的五种新突变和两种罕见突变导致的α -地中海贫血。各民族间α -珠蛋白突变频率比较，汉族（15.71%）与壮族（20.12%）、汉族（15.71%）与瑶族（20.84%）差异有统计学意义。此外，我们对Hb Westmead突变的血流变参数进行了首次广泛的研究，研究对象是一组具有该变异的复合杂合性和α -地中海贫血缺失的中国受试者。在这项研究中获得的知识将使我们能够估计这一高危人群的健康负担，并阐明导致血红蛋白病的各种遗传改变。
Accurate and up-to-date data on the frequency of haemoglobinopathies among the populations of Guangxi Zhuang Autonomous Region, where haemoglobinopathies are most endemic in China, are required. In our study, a total of 5789 samples obtained from members of the Han, Zhang, and Yao ethnic groups in six geographical areas of Guangxi Province were analysed systematically in terms of both haematological and molecular parameters. The results presented that the total heterozygote frequency of thalassaemias and other haemoglobinopathies was 24.51%, of which 17.55% was due to alpha-thalassaemia, 6.43% to beta-thalassaemia, 0.38% to structural haemoglobin variants, and 0.16% to O-thalassaemia. The mutational spectrum among the local population for each type of disorder was described, including the first report on the true prevalence of three silent thalassemia defects, -alpha(3.7)/(4.78%), -alpha(4.2)/(1.61%) and Hb Westmead (alpha(WS)alpha/) (1.57%) and of alpha-thalassemia resulting from five novel and two rare mutations never before identified in Chinese individuals. Comparison of the frequencies of alpha-globin mutations among the ethnic groups showed that there was a statistically significant difference between the Han (15.71%) and Zhuang (20.12%), and between the Han (15.71%) and Yao (20.84%) ethnic groups. In addition, we have performed the first extensive study of haematological parameters of the Hb Westmead mutation using a group of Chinese subjects with compound heterozygosity for this variant and an alpha-thalassaemia deletion. The knowledge gained in this study will enable us to estimate the health burden in this high-risk population and to elucidate the various genetic alterations that underlie haemoglobinopathies.