A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC)

Abstract

β-Thalassemia (β-thal) is one of the most common inherited disorders in southern China. More than 300 β-globin gene mutations around the world have been reported in the HbVar database. In this study, a novel mutation in a 30-year-old Chinese woman [IVS-II-203-205 (TCT>CC), HBB: c.315+203TCT>CC] was first found by direct sequencing. Subsequently, investigation of her parents’ genetic codes was completed, and the results showed that her father also carried this mutation. Based on the features observed in clinical practice, this novel mutation was regarded as a mild phenotype of β-thal.

Keywords:

• β-globin gene
• β-thalassemia (β-thal)
• novel mutation

Disclosure statement

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