Hb Jishui [HBA1: c.225C>G, Codon 74 (GAC>GAG), Asp→Glu]: A Novel α Chain Hemoglobin Variant Detected During Hb A1c Measurement. (4th July 2021)

• Record Type: Journal Article
• Authors: Xie, Weijie; Zheng, Huiqi; Xu, Anping; Ji, Ling
• Is Part Of: Hemoglobin. Volume 45:Number 4(2021)
• Page Start: 259
• Page End: 261
• Publication Date: 2021-07-04
• Subjects: Capillary electrophoresis (CE) -- Hb A1c -- Hb Jishui [HBA1: c.225C>G] -- hemoglobin (Hb) variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.1966796
• Languages: English
• ISSNs: 0363-0269

Abstract

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 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 (GA C >GA G ), Asp→Glu]. We named it Hb Jishui after the birthplace of the proband.