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

• Published in: Hemoglobin Vol. 45; no. 2; pp. 97 - 102
• Main Authors: Panichchob, Prapaporn, Iamdeelert, Pooncharus, Wongsariya, Putita, Wongsariya, Pitchaya, Wongwattanasanti, Pinnaree, Tepakhan, Wanicha, Jomoui, Wittaya
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 04.03.2021
• Subjects: Alleles; beta-Globins - genetics; beta-Thalassemia - diagnosis; beta-Thalassemia - epidemiology; beta-Thalassemia - genetics; Codon; Eastern Thailand; genetic disorder; Humans; Mutation; Nakhon Nayok; Thailand; β-Thalassemia (β-thal; Thailand; ); Eastern Thailand; Nakhon Nayok; genetic disorder; β-Thalassemia (β-thal
• ISSN: 0363-0269; 1532-432X; 1532-432X
• DOI: 10.1080/03630269.2021.1924193

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.