A Novel β-Globin Gene Mutation: Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C]. (4th May 2018)

• Record Type: Journal Article
• Authors: Xu, An-Ping; Li, Jie; Chen, Wei-Dong; Zhou, Yu; Zheng, Ruo-Yang; Ji, Ling
• Is Part Of: Hemoglobin. Volume 42:Number 3(2018)
• Page Start: 196
• Page End: 198
• Publication Date: 2018-05-04
• Subjects: β-Globin gene -- Hb Shenzhen -- Hemoglobin (Hb) variant; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2018.1510418
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel β-globin chain variant, Hb Shenzhen [β90(F6)Glu→Ala, HBB: c.272A>C], in a 52-year-old Chinese individual. The hemoglobin (Hb) variant takes the position of the Hb D zone using capillary electrophoresis. Sanger sequencing revealed a novel base mutation on the β-globin gene, HBB : c.272A>C, that resulted in a transition of glutamic acid to alanine at exon 2 of the β-globin gene. We named this novel variant Hb Shenzhen for the geographic origin of this proband.