Hb Guangxi [Beta 65(E9)Lys -> Glu (Aag>Gag); Hbb: C.196a>G]: A Novel Beta-Globin Variant

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 beta-globin gene [beta 65(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.