Molecular Epidemiology Investigation of β-Thalassemia in Zhongshan City, Guangdong Province, People's Republic of China

Abstract

β-Thalassemia (β-thal) is one of the most common genetic diseases in southern China. In order to obtain detailed epidemiology data to be used for primary prevention programs, we have analyzed 2,055 independent subjects living in Zhongshan City, Guangdong Province, People's Republic of China (P.R. China), by using hematological biochemical screening and DNA technology. The results indicate a higher prevalence (3.07%) of β-thal and coinheritance of α- and β-thal (0.49%) than previously reported for Guandong Province. Ten β-thal mutations were found in 63 independent chromosomes. The four most common mutations [codons 41/42 (–TCTT), IVS-II-654 (C>T), –28 (A>G), codon 17 (A>T)] accounted for 90.46% of the total. The uncommon mutations profile was different from that of other cities in Guangdong Province and the rare mutation IVS-II-2 (–T), once reported in Hong Kong, was also detected. This study will contribute to the development of prevention strategies in the region, allowing better genetic counseling and prenatal diagnosis of β-thal.

Keywords:

• β-Thalassemia (β-thal)
• α-Thalassemia (α-thal)
• Epidemiology
• Prevention
• Mutations

ACKNOWLEDGMENTS

Cui-Mei Zhang and Ying Wang contributed equally to this study. We thank Dr. Qiu-Hua Mo (Zhuhai Entry-Exit Inspection and Quarantine Bureau, Zhuhai, Guangdong, P.R. China) for his excellent technical assistance and manuscript revision, and Dr. Sheng-Li An (Department of Biostatistics, Southern Medical University, Guangzhou, Guangdong, P.R. China) for his excellent suggestions in the epidemiological survey. This study was supported by the Research Foundation for Medical Project from Guangdong Science and Technology Department (A2008824 to C-MZ), and by the Fund of Science and Technology Program of Zhongshan City (20082A120 to C-MZ), People's Republic of China.

Declaration of Interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.