A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C]

Abstract

We report a novel β-globin chain variant, Hb Shenzhen [β90(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 β-globin gene, HBB: c.272A>C, that resulted in a transition of glutamic acid to alanine at exon 2 of the β-globin gene. We named this novel variant Hb Shenzhen for the geographic origin of this proband.

Keywords:

• β-Globin gene
• Hb Shenzhen
• Hemoglobin (Hb) variant

Disclosure statement

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