The spectrum of α- and β-thalassemia mutations of the Li people in Hainan Province of China

• Published in: Blood cells, molecules, & diseases Vol. 53; no. 1-2; pp. 16 - 20
• Main Authors: Yao, Hongxia, Chen, Xinping, Lin, Lie, Wu, Congming, Fu, Xiangjun, Wang, Hua, Yao, Zhiming, Chen, Wenting, Huang, Li, Tang, Ruimei, Rao, Ruo, Wang, Suwen, Ding, Yipeng
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2014
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; alpha-Globins - genetics; alpha-Thalassemia - epidemiology; alpha-Thalassemia - genetics; beta-Globins - genetics; beta-Thalassemia - epidemiology; beta-Thalassemia - genetics; Child; Child, Preschool; China - epidemiology; Ethnic Groups - genetics; Gene Frequency; Genetic diagnosis; Genotype; Geography; Hainan Province; Han people; Humans; Incidence; Infant; Li people; Middle Aged; Mutation; Phenotype; Population genetics; Thalassemia; Young Adult; China; Hainan Province; Thalassemia; Han people; Population genetics; Li people; Genetic diagnosis
• ISSN: 1079-9796; 1096-0961; 1096-0961
• DOI: 10.1016/j.bcmd.2014.01.003

This study examines the frequency and spectrum of α- and β-thalassemia (thal) mutations of the Li people in Hainan Province of China. We have analyzed by genotyping a sample of 8600 subjects of the Li people and found that 53.45% subjects have only α-thal mutations with high frequencies of −α4.2 and −α3.7, but fewer −−SEA mutation; 3.83% have β-thal mutations all identified to be 41/42 (−TCTT); whereas 7.99% carry both α-thal and β-thal mutations. We also examined 9800 subjects of the Han people, and the result showed 12.16% subjects have only α-thal mutations with −−SEA and −α3.7 the most frequent mutation types, 6.11% have only β-thal mutations of 7 types, whereas 4.85% carry both α-thal and β-thal mutations. Our study demonstrated that the Li people in Hainan province have a high incidence of −α4.2 and −α3.7 thalassemia, low frequencies of α-thal −SEA, and a novel β mutation, 41/42 (−TCTT). We provide the complete spectrum of α-thal and β-thal mutations and a strategy for accurate molecular diagnostic testing in the Li people in Hainan Province of Southern China.