First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family.

We have found an example of the mutation at the intronic region of the second intervening sequence of the β-globin gene, IVS-II-705 (T>G) (HBB: c.316-146T>G), in a Chinese family. The two subjects heterozygous for this mutation presented with typical β-thalassemia (β-thal) trait.