Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.

Hui Xi,Qin Liu,Dong Hua Xie,Xu Zhou,Wang Lan Tang,De Guo Tang, Chun Yan Zeng, Qiong Wang,Xing Hui Nie,Jin Ping Peng, Xiao Ya Gao,Hong Liang Wu,Hao Qing Zhang,Li Qiu,Zong Hui Feng,Shu Yuan Wang, Shu Xiang Zhou,Jun He,Shi Hao Zhou, Fa Qun Zhou, Jun Qing Zheng, Shun Yao Wang,Shi Ping Chen, Zhi Fen Zheng, Xiao Yuan Ma,Jun Qun Fang,Chang Biao Liang,Hua Wang

Biomedical and environmental sciences : BES（2023）

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摘要

Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.

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关键词

Abnormal hemoglobin variants,Carrier rate,Molecular spectrum,Thalassemia,α-globin triplication

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