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

Hemoglobin. 2018 May;42(3):196-198. doi: 10.1080/03630269.2018.1510418. Epub 2018 Oct 2.

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: Hb Shenzhen; Hemoglobin (Hb) variant; β-Globin gene.

MeSH terms

  • Asian People
  • Electrophoresis, Capillary
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Middle Aged
  • Mutation, Missense*
  • Point Mutation
  • Sequence Analysis, DNA
  • beta-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • beta-Globins