Article
A Novel Mutation at HBA1: c.349G>T Causing α-Thalassemia in a Chinese Family.
Hemoglobin - 1 Mar 2021
Yin Zhenzhen, Hao Yuqi, Huang Xiaoyan, Chen Xiaohang, Chen Shiping, Li Gaochi, Chen Chuyan, Wei Fengxiang
Abstract excerpt
α-Thalassemia (α-thal) is one of the most common genetic diseases in Southern China. Although more than 300 α-thal mutations have been reported in the world, the mutation spectrum is still not comprehensive. In this study, a novel mutation (HBA1: c.349G>T) in a newborn (proband) was first found by next-generation sequencing (NGS). Subsequently, hematological analysis and thalassemia genetic testing were performed...
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