Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 45, 2021 - Issue 2
183
Views
5
CrossRef citations to date
0
Altmetric
Original Articles

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

, , , , , ORCID Icon & ORCID Icon show all
Pages 97-102 | Received 25 Mar 2021, Accepted 23 Apr 2021, Published online: 10 May 2021
 

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.

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].

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.