| Literature DB >> 30277418 |
An-Ping Xu1, Jie Li1, Wei-Dong Chen1, Yu Zhou1, Ling Ji1.
Abstract
We report here a novel α1-globin chain variant, Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A], in a Chinese individual. The proband, a 28-year-old Chinese female, was discovered following routine Hb A1c analysis using cation exchange high performance liquid chromatography (HPLC). Sanger sequencing revealed a novel missense mutation, HBA1: c.344C>A (CCC>CAC), in exon 2 of the α1-globin gene. The mutation caused a transition of proline to histidine at position α114(GH2) on the α1-globin chain. This new variant was named Hb Hubei after the geographic origin of the proband.Entities:
Keywords: Hb Hubei; hemoglobin (Hb) variant; α-Globin chain
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Year: 2018 PMID： 30277418 DOI： 10.1080/03630269.2018.1502197
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849