Molecular Spectrum of α- and β-Thalassemia Mutations in a Large Ethnic Hakka Population in Southern China

Abstract

Thalassemia is one of the most prevalent inherited disorders in southern China. However, there have been few reports on molecular characterization of α- and β-thalassemia (α- and β-thal) in the large Hakka population living in Meizhou, a city with high incidence of thalassemia in China. A total of 11,631 in- and outpatients in the Hakka area were analyzed by DNA-based α- and β-thal testing. Of all the samples, 4280 mutant chromosomes were detected, accounting in a total of 35.98%, of which 2864 (24.82%) α-thal mutants were detected, 1268 (10.09%) β-thal mutants were detected, 148 (1.27%) α- and β-thal mutants were detected. The following mutations – –^SEA/αα (Southeast Asian deletion), β^A/β^A; αα/αα, IVS-II-654 (C>T) (HBB: c.316-197C>T)/β^A; αα/αα, codons 41/42 (–TCTT) (HBB: c.126_129delCTTT)/β^A; and –α^3.7/αα, β^A/β^A were the most common thalassemia genotypes. The most common thalassemia genotype in the Hakka population in Meizhou was α-thal. In order to reduce the incidence of severe thalassemia in children, a prevention and control strategy should be established based on the distribution data of thalassemia genotyping. Our findings provide a valuable reference for clinical institutions or local governments to reduce the prevalence of thalassemia in the subtropical regions in the world.

Keywords:

• Genotyping
• Hakka population
• molecular spectrum
• southern China
• thalassemia

Disclosure statement

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

Additional information

Funding

This study was supported by Natural Science Foundation of Guangdong Province, China [Grant No. 2016A030307031 to Dr. Pingsen Zhao], Medical Scientific Research Foundation of Guangdong Province, China [Grant No. A2016306 to Dr. Pingsen Zhao], The National Key Research and Development Program of China [Grant No. 2016YFD0050405 to Dr. Pingsen Zhao], The National Key Research and Development Program of China [Grant No. 2017YFD0501705 to Dr. Pingsen Zhao] and Key Scientific and Technological Project of Meizhou People’s Hospital (Huangtang Hospital), Meizhou Hospital Affiliated to Sun Yat-sen University, Guangdong Province, China [Grant No. MPHKSTP-20170102 to Dr. Pingsen Zhao].