Hb Hubei [α114(GH2)Pro→His, HBA1: c.344C>A]: A Novel Hemoglobin Variant of the α1-Globin Chain. (4th May 2018)

• Record Type: Journal Article
• Authors: Xu, An-Ping; Li, Jie; Chen, Wei-Dong; Zhou, Yu; Ji, Ling
• Is Part Of: Hemoglobin. Volume 42:Number 3(2018)
• Page Start: 206
• Page End: 208
• Publication Date: 2018-05-04
• Subjects: α-Globin chain -- Hb Hubei -- hemoglobin (Hb) variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1502197
• Languages: English
• ISSNs: 0363-0269

Abstract

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 (C C C>C A C), 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.