Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family. (3rd July 2016)

• Record Type: Journal Article
• Authors: He, Sheng; Lin, Li; Wei, Yuan; Chen, Biyan; Yi, Shang; Chen, Qiuli; Qiu, XiaoXia; Wei, Hongwei; Li, Guojian; Zheng, Chenguang
• Is Part Of: Hemoglobin. Volume 40:Number 4(2016)
• Page Start: 277
• Page End: 279
• Publication Date: 2016-07-03
• Subjects: β-Globin -- β-thalassemia -- novel mutation; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2016.1200073
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63–65 ( HBB : c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a β 0 -thal phenotype.