A Novel ß-Globin Gene Mutation: Hb Shenzhen [ß90(F6)Glu→Ala, HBB: c.272A>C].

ABSTRACT

We report a novel ß-globin chain variant, Hb Shenzhen [ß90(F6)Glu→Ala, HBB c.272A>C], in a 52-year-old Chinese individual. The hemoglobin (Hb) variant takes the position of the Hb D zone using capillary electrophoresis. Sanger sequencing revealed a novel base mutation on the ß-globin gene, HBB c.272A>C, that resulted in a transition of glutamic acid to alanine at exon 2 of the ß-globin gene. We named this novel variant Hb Shenzhen for the geographic origin of this proband.