Hb Jishui [HBA1: c.225C>G, Codon 74 (GAC>GAG), Asp→Glu]: A Novel α Chain Hemoglobin Variant Detected During Hb A_1c Measurement

Abstract

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 A_1c by a capillary electrophoresis (CE) method (Hb A_1c 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 A_1c
• Hb Jishui [HBA1: c.225C>G]
• hemoglobin (Hb) variant

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by Guangdong Medical Science Foundation [B2021064].