First Report of Nondeletional Hb H Disease Caused by an α2-Globin Gene Mutation: HBA2: c.184A>T. (4th May 2021)

• Record Type: Journal Article
• Authors: Tian, Qi; Lei, Ya-Li; Xu, Li-Li; Li, Dong-Zhi
• Is Part Of: Hemoglobin. Volume 45:Number 3(2021)
• Page Start: 210
• Page End: 211
• Publication Date: 2021-05-04
• Subjects: α -Thalassemia (α -thal) -- frameshift mutation -- HBA2 gene -- nondeletional Hb H disease; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.1930553
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a rare mutation, HBA2 : c.184A>T on the α2-globin gene, detected in a Chinese proband who presented with Hb H disease and a mild anemia. This frameshift mutation results in a premature termination of translation at position 61 of the α2-globin gene. Carriers of this mutation showed a borderline microcytic hypochromia. Our study indicates the importance of screening nondeletional α-thalassemia (α-thal) in areas with a particularly high prevalence of thalassemia such as in Southern China, especially for couples with one partner carrying an α 0 -thal deletion.