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Mild -Thalassemia Caused by a Mosaic -Globin Gene Mutation

Rong-Yue Wang,Fan Jiang,Li-Li Xu,Dong-Zhi Li

HEMOGLOBIN（2021）

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Abstract
We describe a new alpha-globin chain variant in a Chinese subject. This novel variant, with a Val -> Met substitution at codon 93 of the alpha-globin chain, has been named Hb Qingcheng (HBA1: c.280G>A) for where the proband was born. A woman with somatic mosaicism for Hb Qingcheng presented with the phenotype of mild alpha-thalassemia (alpha-thal).
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&#945,-Globin chain variant,&#945,-thalassemia (&#945,-thal),Hb Qingcheng
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