Hongxia Yao, Xinping Chen, Lie Lin, Congming Wu, Xiangjun Fu, Hua Wang, Zhiming Yao, Wenting Chen, Li Huang, Ruimei Tang, Ruo Rao, Suwen Wang and Yipeng Dinga
People�??s Hospital of Hainan Province, China
Posters-Accepted Abstracts: J Blood Disord Transfus
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.
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