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
Peopleâ??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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