Abstract
β-Thalassemia (β-thal) is one of the most common autosomal recessive disorders worldwide. It is caused mainly by point mutations or, more rarely, deletions on the β-globin gene, leading to reduced (β+) or absent (β0) synthesis of the β chains of hemoglobin (Hb). Molecular characterization of β-thal is essential for the prevention of this disease in the population. In China, more than 46 different mutations have been found, while approximately five large deletional types of β-thal have been reported. Here we described a large deletional mutation of the β-globin gene cluster previously unreported in the Chinese population, the 3.5 kb deletion (NC_000011.10: g.5224302-5227791del3490bp) removing the β-globin gene promoter and the whole β-globin gene leading to a β0-thal phenotype.
Acknowledgments
We are grateful to our current laboratory members for their helpful comments on the manuscript.
Disclosure statement
The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.