| Title | Hb Jishui [HBA1: c.225C > G, Codon 74 (GAC > GAG), Asp -> Glu]: A Novel alpha Chain Hemoglobin Variant Detected During Hb A(1c) Measurement |
| Authors | Xie, Weijie Zheng, Huiqi Xu, Anping Ji, Ling |
| Affiliation | Peking Univ, Shenzhen Hosp, Dept Lab Med, Lianhua Rd 1120, Shenzhen, Guangdong, Peoples R China |
| Issue Date | Nov-2021 |
| Publisher | HEMOGLOBIN |
| Abstract | Here we report a novel alpha 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 (TM) beta-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. |
| URI | http://hdl.handle.net/20.500.11897/629646 |
| ISSN | 0363-0269 |
| DOI | 10.1080/03630269.2021.1966796 |
| Indexed | SCI(E) |
| Appears in Collections: | 深圳医院 |
