1. The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
- Author
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Aihua Yin, Bing Li, Mingyong Luo, Longchang Xu, Li Wu, Liang Zhang, Yuanzhu Ma, Tingting Chen, Shuang Gao, Juqing Liang, Hao Guo, Danqing Qin, Jicheng Wang, Tenglong Yuan, Yixia Wang, Wei-wei Huang, Wen-Fei He, Yanxia Zhang, Chang Liu, Sujian Xia, Qingshan Chen, Qingguo Zhao, and Xiaozhuang Zhang
- Subjects
Medicine ,Science - Abstract
ObjectiveTo reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.MethodsA total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.ResultsA 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.ConclusionsThere 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.
- Published
- 2014
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