Molecular Spectrum of β-Thalassemia in Fujian Province, Southeastern China

Abstract

To provide basic information for β-thalassemia (β-thal) screening, genetic counseling and prenatal diagnosis (PND), we characterized β-thal mutations in Fujian Province, Southeastern China. A total of 16 different β-thal gene mutations were identified from 1058 patients. Of these, the IVS-II-654 (C>T) and codons 41/42 (–TCTT) were the most prevalent, accounting for 76.3% of the total mutations. Six gene mutations, IVS-I-1 (G>T), Cap +40 to +43 (–AAAC), codon 30 (A>G), +22 (G>A), codons 54–58 (–TTATGGGCAACCC) and the initiation codon (ATG>AGG) were characterized for the first time in the Fujian population. Furthermore, the following mutations, +22 (G >A), codon 36 (–C) and codon 30 (A>G), were identified for the first time in Chinese individuals. This was the first comprehensive mutation spectrum of β-thal mutations studied in Fujian Province, People’s Republic of China (PRC).

• β-Thalassemia (β-thal)
• Mutations
• Fujian Province

ACKNOWLEDGMENTS

We thank all the patients and research workers for their participation.

Declaration of Interest

This research was supported by grants from Key Project from Fujian Provincial Department of Science and Technology (2010Y0009), Fujian Provincial Department of Science and Technology (2012J01311), Fujian Medical Innovation Project (2009-CX-14; 2012-CX-9) and key Clinical Specialty Discipline Construction Program of Fujian (20121589), PRC. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.