Hb Dapu (HBA2: c.52G > T): A Novel Nondeletional α-Thalassemia Mutation

Abstract

We report a novel mutation on the α2-globin gene, Hb Dapu [α17(A15)Val →Phe (α2); HBA2: c.52G > T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. The combination of this mutation with an in cis deletion of a double α-globin gene resulting in a mild form of Hb H (β4) disease, is consistent with a thalassemic phenotype associated with the novel mutation.

Keywords:

• α-thalassemia (α-thal)
• α2-globin gene
• Hb Dapu
• nondeletional mutation

Declaration of interest

This study was supported by a grant from the National Natural Science Foundation (81571448), People’s Republic of China. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.