Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand

Abstract

The aim of this study was to determine the molecular spectrum of β-thalassemia (β-thal) mutations in eastern Thailand. We identified β-thal mutations using allele specific-polymerase chain reaction (ASPCR) and direct DNA sequencing. We found 18 different β-thal mutations in a total of 191 unrelated subjects. Six common β-thal mutations comprised 86.91% of all the mutations, including codons 41/42 (–TTCT) (HBB: c.126_129delCTTT) (35.60%), codon 17 (A>T) (HBB: c.52A>T) (18.85%), −28 (A>G) (HBB: c.-78A>G) (15.71%), IVS-II-654 (C>T) (HBB: c.316-197C>T) (6.28%), IVS-I-1 (G>T) (HBB: c.92+1G>T) (5.76%) and codon 19 (A>G) (HBB:(c.59A>G) (4.71%). In addition, a novel 60 kb deletion in two unrelated cases was characterized and initially suspected to originate from eastern Thailand. Moreover, we demonstrated the molecular spectrum of recent β-thal mutations in Thailand, and data from this study were compared with five reference laboratory centers in Thailand. This study is the first to identify the comprehensive molecular spectrum of β-thal mutations in eastern Thailand, information that may be essential for screening, genetic counseling and prenatal diagnosis (PND) in this region.

Keywords:

• β-Thalassemia (β-thal
• )
• Eastern Thailand
• genetic disorder
• Nakhon Nayok

Acknowledgments

Authors’ contributions: W. Jomoui was responsible for the design of the study, performed the research, analysis of data, writing and editing the final manuscript, as well as acquisition of the grant; P. Panichchob, P. Iamdeelert, Putita Wongsariya, Pitchaya Wongsariya, P. Wongwattanasanti, performed the research, analysis of data, drafted the manuscript; W. Tepakhan helped in MLPA, and haplotype analysis. All authors approved the final version of the article.

Disclosure statement

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

Additional information

Funding

W. Jomoui was supported by the revenue of Faculty of Medicine, Srinakharinwirot University, Thailand [No. 218/2563].