The prevalence and spectrum of α and β thalassaemia in Guangdong Province:: implications for the future health burden and population screening
The prevalence and spectrum of α and β thalassaemia in Guangdong Province:: implications for the future health burden and population screening
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DOI：
10.1136/jcp.2003.014456
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发表时间：
2004-05-01
影响因子：
3.4
通讯作者：
Zhong, M
中科院分区：
文献类型：
--
作者：
Xu, XM;Zhou, YQ;Zhong, M
目的：地中海贫血是发展中国家通过预防性遗传规划控制的良好候选疾病。准确的人口频率数据是规划控制地中海贫血在中国南方广东省的高风险。方法：对广东省5个地理区域连续采集的13 397份样本进行血液学和分子参数分析。结果：α型地中海贫血（8.53%）、β型地中海贫血（2.54%）、α型和β型地中海贫血（0.26%）携带者较高。总体而言，该地区11.07%的人口是α和β地中海贫血的杂合携带者。本地区对α和β型地中海贫血的突变谱及其构成进行了全面的描述。本研究首次报道了中国南方人群中沉默型α型地中海贫血的真实患病率。此外，还发现了两种导致α -地中海贫血的新突变，一种导致β -地中海贫血的缺失，以及一种以前未在中国大陆报道的罕见缺失（- (THAI)等位基因）。最常见的突变，东南亚型缺失（- (SEA)，占所有α型地中海贫血的48.54%）的频率与两个α(+)型地中海贫血缺失(- α（3.7)和- α(4.2)，占α型地中海贫血的47.49%）的频率相似。结论：α和β型地中海贫血在广东省均有广泛分布。在这项研究中获得的知识将有助于估计有风险的怀孕人数，并在这一领域设计控制地中海贫血的筛查战略。
Aim: Thalassaemia is a good candidate disease for control by preventive genetic programmes in developing countries. Accurate population frequency data are needed for planning the control of thalassaemia in the high risk Guangdong Province of southern China.Methods: In total, 13 397 consecutive samples from five geographical areas of Guangdong Province were analysed for both haematological and molecular parameters.Results: There was a high prevalence of carriers of alpha thalassaemia (8.53%), beta thalassaemia (2.54%), and both alpha and beta thalassaemia (0.26%). Overall, 11.07% of the population in this area were heterozygous carriers of alpha and beta thalassaemia. The mutation spectrum of alpha and beta thalassaemia and its constitution were fully described in this area. This study reports the true prevalence of silent alpha thalassaemia in the southern China population for the first time. In addition, two novel mutations that give rise to alpha thalassaemia, one deletion resulting in beta thalassaemia, and a rare deletion (--(THAI) allele) previously unreported in mainland China were detected. The frequency of the most common mutation, the Southeast Asian type of deletion (--(SEA), accounting for 48.54% of all alpha thalassaemias) was similar to the total of two alpha(+) thalassaemia deletions (-alpha(3.7) and -alpha(4.2), accounting for 47.49% of alpha thalassaemia).Conclusion: Both alpha and beta thalassaemia are widely distributed in Guangdong Province of China. The knowledge gained in this study will enable the projected number of pregnancies at risk to be estimated and a screening strategy for control of thalassaemia to be designed in this area.