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Hb Dapu (HBA2: c.52G > T): A Novel Nondeletional α-Thalassemia Mutation
Yu Yang1, Dong-Zhi Li2, Ping He1
1a Department of Obstetrics and Gynecology , Guangzhou Women & Children Medical Center Affiliated to Guangzhou Medical University , Guangzhou , People's Republic of China and.
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.
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