Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0–15 Years

Abstract

β-Thalassemia (β-thal), one of the most common form of single-gene inheritable blood diseases in the world, is highly prevalent in southern China, especially in the Guangxi Zhuang Autonomous Region. To update the β-thal mutation spectrum in this region, we performed hematological and genetic analyses on 888 β-thal major (β-TM), β-thal intermedia (β-TI) and β-thal carrier patients, aged 0–15 years old, from different parts of Guangxi Province. We identified 55 genotypes and 18 β-thal mutations. The codons 41/42 (–TTCT) (HBB: c.126_129delCTTT) (43.97%), codon 17 (A>T) (HBB: c.52A>T) (25.43%), −28(A>G) (HBB: c.-78A>G) (8.18%), IVS-II-654 (C>T) (HBB: c.316-197C>T) (7.85%) and codon 26 (G>A) (HBB: c.79G>A) (5.02%) were the five most common, accounting for more than 90.0%. The results of our study are providing an up-to-date β-thal mutation spectrum in the 0–15-year-old pediatric population, which will help genetic counseling and prevention of β-TM in mainland China’s most endemic region, Guangxi Zhuang Autonomous Region.

Keywords:

• β-Thalassemia (β-thal)
• Guangxi Province
• Mutation
• Spectrum

Acknowledgements

We thank Qinzhou Maternal and Child Health Care Hospital, Qinzhou, Guangxi Province, PRC, for case support. We thank all the patients and research workers for their participation.

Disclosure statement

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