A Novel Mutation of the 2-Globin Gene Causing (+)-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)

摘要

We report a novel mutation on the 2-globin gene, Hb Nanning (HBA2:c.369_370delinsGA) detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by various separation techniques. Both carriers of the mutation have mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) values that are below normal, as would be predicted for an (+)-thalassemia ((+)-thal) patient.