Identification of a Novel β-Thalassemia Mutation at Codon 130 (+T) (HBB: c.391insT) in Han Chinese. (2nd January 2021)

• Record Type: Journal Article
• Authors: Wang, Wen-Juan; Ding, Zi-Xuan; Zhang, Hui-Min; Tao, Ting-Ting; Chen, Su-Ning; Xi, Ling
• Is Part Of: Hemoglobin. Volume 45:Number 1(2021)
• Page Start: 46
• Page End: 48
• Publication Date: 2021-01-02
• Subjects: Chinese -- β-globin -- β-thalassemia (β-thal) -- hemoglobin (Hb) -- novel mutation; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2020.1862183
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although more than 900 β-globin gene mutations around the world have been identified, here we report a novel mutation detected in a Chinese subject of Han ethnicity. This allele develops by insertion of one nucleotide (+T) at codon 130 ( HBB : c.391insT) in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. The identification of the novel mutation will facilitate future diagnosis of β-thal and will also be useful the genetic counseling and prenatal diagnosis.