A Novel α-Thalassemia Nonsense Mutation on the α2-Globin Gene: HBA2: c.184A>T. (2nd November 2017)

• Record Type: Journal Article
• Authors: Liang, Yuan; Peng, Qi; Li, Miao; Li, Siping; Li, Wenrui; Lu, Xiaomei
• Is Part Of: Hemoglobin. Volume 41:Number 4/5/6(2017)
• Page Start: 306
• Page End: 307
• Publication Date: 2017-11-02
• Subjects: α-Globin gene -- α-thalassemia (α-thal) -- nonsense mutation; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2017.1402027
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel mutation on the α2-globin gene, HBA2 : c.184A>T, detected in a Chinese proband. This mutation resulted in a Lys→Term substitution at position 62 of the α2-globin gene, causing a premature termination of translation. This mutation did not cause severe hematological abnormalities in the carriers. From the properties of substituted residues on the α2-globin gene, it is generally expected that this mutation causes unstable and truncated protein, thus this mutation should be detected in couples at-risk for α-thalassemia (α-thal).