Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain

Hemoglobin. 2018 May;42(3):206-208. doi: 10.1080/03630269.2018.1502197. Epub 2018 Oct 2.

Abstract

We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A], in a Chinese individual. The proband, a 28-year-old Chinese female, was discovered following routine Hb A1c analysis using cation exchange high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel missense mutation, HBA1: c.344C>A (CCC>CAC), in exon 2 of the α1-globin gene. The mutation caused a transition of proline to histidine at position α114(GH2) on the α1-globin chain. This new variant was named Hb Hubei after the geographic origin of the proband.

Keywords: Hb Hubei; hemoglobin (Hb) variant; α-Globin chain.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asian People
  • Chromatography, High Pressure Liquid
  • Female
  • Glycated Hemoglobin
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Mutation, Missense*
  • Point Mutation
  • Sequence Analysis, DNA
  • alpha-Globins / genetics*

Substances

  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal
  • alpha-Globins