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

Abstract

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.

Keywords:

• β-Globin gene
• hemoglobin (Hb) variant
• Hb Guangxi

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Weifang Science and Technology Development Program [2017YX003] and Research Foundation of Peking University Shenzhen Hospital [JCYJ2018005].