Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant.

Miao Xu, Wei-Dong Chen, Ya-Jun Wang, Yu Zhou, Jie Li, An-Ping Xu, Ling Ji

Hemoglobin 2021 Nov

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We report a novel variant found in a female from Guilin municipality in the Guangxi Zhuang Autonomous Region of the People's Republic of China. This variant can be readily detected by both cation exchange high performance liquid chromatography (HPLC) and capillary electrophoresis (CE). Sanger sequencing revealed a novel mutation on the β-globin gene [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]. We named this novel hemoglobin (Hb) variant Hb Guangxi for the place of origin of the proband.

Citation

Miao Xu, Wei-Dong Chen, Ya-Jun Wang, Yu Zhou, Jie Li, An-Ping Xu, Ling Ji. Hb Guangxi [β65(E9)Lys→Glu (AAG>GAG); HBB: c.196A>G]: A Novel β-Globin Variant. Hemoglobin. 2021 Nov;45(6):349-350