First Description of a β-Thalassemia Mutation, −86 (C > G) (HBB: c.−136C > G), in a Chinese Family. (2nd November 2015)

• Record Type: Journal Article
• Authors: He, Sheng; Qin, Qian; Yi, Shang; Zhou, Wanjun; Deng, Jianping; Zheng, Chenguang; Chen, Biyan
• Is Part Of: Hemoglobin. Volume 39:Number 6(2015)
• Page Start: 448
• Page End: 450
• Publication Date: 2015-11-02
• Subjects: β-Thalassemia (β-thal) -- CACCC box -- phenotype; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2015.1070734
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We present the first description of a Chinese family with a β-thalassemia (β-thal) mutation −86 (C > G) ( HBB : c.−136C > G). This mutation changes the conserved promoter sequence within the proximal CACCC box of the β-globin gene that leads to a phenotype of β + -thal. The β-globin haplotype analysis revealed that the −86 mutation in our case was linked with haplotype I [+ − − − − + +]. This haplotype was commonly found both in the β-thal mutation and the β A gene. Our results suggest that the −86 mutation possibly does not have a distinct origin.