The Prevalence and Molecular Spectrum of α- and β-Globin Gene Mutations in 14,332 Families of Guangdong Province, China

• Published in: PloS one Vol. 9; no. 2; p. e89855
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 27.02.2014; Public Library of Science (PLoS)
• Subjects: alpha-Globins - genetics; alpha-Thalassemia - epidemiology; alpha-Thalassemia - genetics; Anemia; beta-Globins - genetics; beta-Thalassemia - epidemiology; beta-Thalassemia - genetics; Biology; Carriers; China - epidemiology; Codon; Coupling (molecular); Epidemiology; Female; Fetuses; Gene Frequency; Genetic counseling; Genotype; Geography, Medical; Hematology; Heterozygote; Humans; Infant, Newborn; Laboratories; Male; Medicine; Metabolism; Minority & ethnic groups; Mutation; Mutation Rate; Neonates; Newborn babies; Parents; Pregnancy; Prenatal development; Prevalence; Rivers; Thalassemia; China; Beijing China; Guangdong China
• DOI: 10.1371/journal.pone.0089855
• ISSN: 1932-6203

To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province. A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters. 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. 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.