Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014 Feb 27;9(2):e89855.
doi: 10.1371/journal.pone.0089855. eCollection 2014.

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

Aihua Yin  1 , Bing Li  2 , Mingyong Luo  1 , Longchang Xu  2 , Li Wu  2 , Liang Zhang  3 , Yuanzhu Ma  2 , Tingting Chen  2 , Shuang Gao  2 , Juqing Liang  1 , Hao Guo  1 , Danqing Qin  1 , Jicheng Wang  1 , Tenglong Yuan  1 , Yixia Wang  1 , Wei-wei Huang  3 , Wen-Fei He  3 , Yanxia Zhang  1 , Chang Liu  1 , Sujian Xia  4 , Qingshan Chen  5 , Qingguo Zhao  2 , Xiaozhuang Zhang  6
Affiliations

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

Aihua Yin et al. PLoS One. .

Abstract

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.

PubMed Disclaimer

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. The rates of carrier status among pregnant women and their husbands in the 21 regions of Guangdong Province, China.
A) α-thalassemia only; B) β-thalassemia; C) α- and β-thalassemia.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Weatherall DJ (2003) Genomics and global health: time for a reappraisal. Science 302: 597–599. - PubMed
    1. Weatherall DJ (2004) Thalassaemia: the long road from bedside to genome. Nat Rev Genet 5: 625–631. - PubMed
    1. Weatherall DJ (2005) Keynote address: The challenge of thalassemia for the developing countries. Ann N Y Acad Sci 1054: 11–17. - PubMed
    1. Zeng YT, Huang SZ (1985) Alpha-globin gene organisation and prenatal diagnosis of alpha-thalassaemia in Chinese. Lancet 1: 304–307. - PubMed
    1. Zheng CG, Liu M, Du J, Chen K, Yang Y, et al. (2011) Molecular spectrum of alpha- and beta-globin gene mutations detected in the population of Guangxi Zhuang Autonomous Region, People's Republic of China. Hemoglobin 35: 28–39. - PubMed

Publication types

LinkOut - more resources