Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family

Abstract

β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63–65 (HBB: c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a β⁰-thal phenotype.

Keywords:

• β-Globin
• β-thalassemia
• novel mutation

Acknowledgements

We are grateful to our current laboratory staff for their helpful comments on the manuscript.

Declaration of interest

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

This study was supported by grants from the Guangxi science and Technology Department (Gui 1298003-4-2, Gui 14124004-1-5, Gui 1598012-21), the Health Department of Guangxi Province (Z2010063, Z2011060) and Natural Science Foundation of China (81260093).