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Hb Jishui [HBA1: c.225C>G, Codon 74 (GAC>GAG), Asp→Glu]: A Novel α Chain Hemoglobin Variant Detected During Hb A1c

Weijie Xie1, Huiqi Zheng1, Anping Xu1

  • 1Department of Laboratory Medicine, Peking University Shenzhen Hospital, Shenzhen, People's Republic of China.

Hemoglobin
|November 22, 2021
PubMed

Here we report a novel α chain hemoglobin (Hb) variant found in a 74-year-old Chinese male. We accidentally discovered this Hb variant during the measurement of Hb A1c by a capillary electrophoresis (CE) method (Hb A1c program, CapillaryS3 TERA). However, Hb analysis with the Hb program of CapillaryS3 TERA and the VARIANT II™ β-Thalassemia Short Program showed no indication of the Hb variant. Sanger sequencing revealed a new missense mutation on the HBA1 gene [HBA1: c.225C>G, codon 74 (GAC>GAG), Asp→Glu]. We named it Hb Jishui after the birthplace of the proband.

Keywords:
Capillary electrophoresis (CE)Hb A1cHb Jishui [HBA1: c.225C>G]hemoglobin (Hb) variant

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