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

Autor: 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
Předmět:
Zdroj: PLoS ONE; Feb2014, Vol. 9 Issue 2, p1-7, 7p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index