First Detection of Hb Cenxi [β46(CD5)Gly→Arg (G GG> C GG), HBB: c.139G>C] by Capillary Electrophoresis

Hemoglobin. 2021 Jul;45(4):262-264. doi: 10.1080/03630269.2020.1716785. Epub 2020 Jan 27.

Abstract

We report a novel mutation on the β-globin gene in a female of the Chinese population. This mutation produces a β-globin variant that can be detected by the capillary electrophoresis (CE) method, but coelutes with Hb A2 by high performance liquid chromatography (HPLC). DNA sequencing showed a mutation of codon 46 and it was named Hb Cenxi [β46(CD5)Gly→Arg (GGG>CGG), HBB: c.139G>C] for the city of birth of the proband. She presented normal hematological parameters.

Keywords: Hb Cenxi; capillary electrophoresis (CE); hemoglobin (Hb) variant; high performance liquid chromatography (HPLC); thalassemia.

Publication types

  • Case Reports

MeSH terms

  • Electrophoresis, Capillary
  • Female
  • Hemoglobins, Abnormal* / analysis
  • Hemoglobins, Abnormal* / genetics
  • Humans
  • Mutation
  • Sequence Analysis, DNA
  • beta-Globins / analysis
  • beta-Globins / genetics

Substances

  • Hemoglobins, Abnormal
  • beta-Globins