Hb Sichuan [α67(E16)Thr→Ile, HBA2: c.203C>T]: A Novel Hemoglobin Variant That Can Be Detected by Glycated Hemoglobin Electrophoresis

Hemoglobin. 2018 Sep-Nov;42(5-6):330-332. doi: 10.1080/03630269.2018.1540352. Epub 2019 Jan 7.

Abstract

We report a novel α2-globin chain hemoglobin (Hb) variant in a 23-year-old female of Chinese Han nationality. The Hb variant can be detected by glycated Hb electrophoresis (CapillaryS2, Hb A1c program). However, Hb fractions analyzed by capillary electrophoresis (CE) (CapillaryS2, Hb program) and high performance liquid chromatography (HPLC), (VARIANT II™ β-Thalassemia Short Program) showed no suspicious Hb variant. Sanger sequencing revealed a novel mutation [α67(E16)Thr→Ile, HBA2: c.203C>T]. We named this novel variant Hb Sichuan after the geographic origin of the proband.

Keywords: Capillary electrophoresis (CE); Hb Sichuan; glycated hemoglobin (Hb); hemoglobin variant; high performance liquid chromatography (HPLC).

Publication types

  • Case Reports

MeSH terms

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

Substances

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