A novel compound heterozygosity in Southern China: IVS-II-5 (G > C) and IVS-II-672 (A > C)

Abstract

β-Thalassemia (β-thal) is a common hereditary anemia due to decreased or absent synthesis of the β-globin chains. Here, we report a patient found to be a novel compound heterozygote for the rare IVS-II-5 (G > C) (NG_000007.3: g.71044G > C) and IVS-II-672 (A > C) (NG_000007.3: g.71711A > C) mutations, which may be silent mutations that are associated with consistent residual output of β chains, normal red blood cell (RBC) indices and normal or borderline Hb A₂ levels.

Keywords:

• β-Thalassemia
• compound heterozygosity
• DNA
• point mutation
• sequence analysis

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.