First Detection of a Splice Siteβ-Thalassemia Mutation, IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in a Chinese Family

We present the first description of Chinese individuals with the β-thalassemia (β-thal) mutation IVS-I-6 (T > C) (HBB: c.92 + 6T > C). This mutation interferes with mRNA splicing and results in reducing expression of β-globin chains that leads to a β(+)-thal phenotype. The β-globin haplotype anlaysis revealed the IVS-I-6 mutation in our case was linked with haplotype VI [- + + - - - +] and had Mediterranean characteristics.