Dataset Information

The prevalence and molecular spectrum of ?- and ?-globin gene mutations in 14,332 families of Guangdong Province, China.

ABSTRACT:

Objective

To reveal the familial prevalence and molecular variation of ?- and ?-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 ?- and ?-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 ?- or ?-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 ?- or ?-thalassemia carriers) was 1.87%, and the individual carrier rates of ?- and ?-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 ?- and ?-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.

SUBMITTER: Yin A

PROVIDER: S-EPMC3937408 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Publications

The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.

Yin Aihua A Li Bing B Luo Mingyong M Xu Longchang L Wu Li L Zhang Liang L Ma Yuanzhu Y Chen Tingting T Gao Shuang S Liang Juqing J Guo Hao H Qin Danqing D Wang Jicheng J Yuan Tenglong T Wang Yixia Y Huang Wei-wei WW He Wen-Fei WF Zhang Yanxia Y Liu Chang C Xia Sujian S Chen Qingshan Q Zhao Qingguo Q Zhang Xiaozhuang X

PloS one 20140227 2

<h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.<h4>Results</h4>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 h ...[more]

PMID: 24587075

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