中国广东省14332个家庭中α和β珠蛋白基因突变的患病率及分子谱。
The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
作者信息
Yin Aihua, Li Bing, Luo Mingyong, Xu Longchang, Wu Li, Zhang Liang, Ma Yuanzhu, Chen Tingting, Gao Shuang, Liang Juqing, Guo Hao, Qin Danqing, Wang Jicheng, Yuan Tenglong, Wang Yixia, Huang Wei-wei, He Wen-Fei, Zhang Yanxia, Liu Chang, Xia Sujian, Chen Qingshan, Zhao Qingguo, Zhang Xiaozhuang
机构信息
Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Thalassemia Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China ; Department of Healthcare, Guangdong Women And Children Hospital, Guangzhou, Guangdong, China.
出版信息
PLoS One. 2014 Feb 27;9(2):e89855. doi: 10.1371/journal.pone.0089855. eCollection 2014.
OBJECTIVE
To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.
METHODS
A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.
RESULTS
A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.
CONCLUSIONS
There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.
目的
揭示广东省α和β珠蛋白基因突变的家族患病率及分子变异情况。
方法
采集了来自14332个家庭的40808份血样，并对血液学和分子参数进行了分析。
结果
发现α和β珠蛋白基因突变的患病率较高。总体而言，17.70%的孕妇、15.94%的其丈夫、16.03%的新生儿以及16.83%的夫妇（孕妇及其丈夫）是α或β地中海贫血的杂合携带者。患病率最高的地区是山区和西部地区，其次是珠江三角洲；患病率最低的地区是潮汕地区。家族性携带者总率（夫妻双方均为α或β地中海贫血携带者）为1.87%，α和β地中海贫血的个体携带者率分别为1.68%和0.20%。在父母双方均为携带者的夫妇中，中重度胎儿地中海贫血的总发生率为12.
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