The Spectrum of α- And β-Thalassemia Mutations in Yunnan Province of Southwestern China

Abstract

The aim of this study was to investigate the spectrum of thalassemia mutations in Yunnan Province, Southwestern China. We detected 450 thalassemia patients and carriers by multiplex gap polymerase chain reaction (gap-PCR), PCR reverse dot-blot hybridization and direct sequencing methods in 535 suspected patients. Four types of α-thalassemia (α-thal) mutations, – –^SEA (59.2%), –α^3.7 (rightward) (19.0%), Hb Constant Spring [Hb CS, α142, Term→Gln, TAA>CAA (α2), α^CSα] (15.5%), and –α^4.2 (leftward) (6.34%) were detected. Six types of β-thal mutations, the most prevalent being Hb E [β26(B8)Glu→Lys, GAG>AAG or codon 26 (G>A)] (30.5%), followed by codon 17 (A>T) (20.8%), codons 41/42 (−TCTT) (17.5%), IVS-II-654 (C>T) (17.2%), −28 (A>G) (6.95%), and codons 71/72 (+A) (2.42%) were also detected. Other rare mutations were codons 27/28 (+C), IVS-I-1 (G>T), Hb New York [β113(G15)Val→Glu, GTG>GAG], Hb D-Los Angeles [β121(GH4)Glu→Gln, GAA>CAA], codon 5 (–CT), Hb G-Taipei [β22(B4)Glu→Glu (GAA>GGA)], Hb J-Lome [β59(E3)Lys→Asn (AAG>AAC)], Hb J-Bangkok [β56(D7)Gly→Asp (GGC>GAC)], IVS-I-2 (T>C), and −31 (A>C). In this study, we provide a complete mutation spectrum of α- and β-thal mutations and a valuable strategy for accurate molecular diagnostic testing in Yunnan Province, People’s Republic of China (PRC).

• Thalassemia
• Mutation
• Spectrum
• Yunnan Province

ACKNOWLEDGMENTS

We thank Dr. X-M. Xu (Department of Medical Genetics, First Military Medical University, Guangzhou, Guangdong, PRC) for his excellent technical assistance.

Declaration of Interest: This study was partially funded by the Fund of National Natural Science Foundation (30760241), by Research Foundation of Yunnan cited high-level personnel training project (20080C009), and by Natural Science Foundation of Yunnan Province (2011FB224). The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.