Publication: Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand
12
0
Issued Date
2021
Resource Type
Language
eng
File Type
application/pdf
ISSN
3630269
Other identifier(s)
2-s2.0-85106272788
Rights Holder(s)
Scopus
Bibliographic Citation
Hemoglobin. Vol 45, No.2 (2021), p.97-102
Suggested Citation
Panichchob P., Iamdeelert P., Wongsariya P., Wongsariya P., Wongwattanasanti P., Tepakhan W., Jomoui W. Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand. Hemoglobin. Vol 45, No.2 (2021), p.97-102. doi:10.1080/03630269.2021.1924193 Retrieved from: https://hdl.handle.net/20.500.14740/8050
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. © 2021 Informa UK Limited, trading as Taylor & Francis Group.
Subject(s)
Hemoglobin A2
Hemoglobin E
Hemoglobin F
Adult
Aged
Allele specific polymerase chain reaction
Article
Beta thalassemia
Child
Codon
Controlled study
DNA sequencing
Gene deletion
Gene frequency
Gene mutation
Genetic counseling
Genetic heterogeneity
Genetic screening
Genotype
Hematological parameters
Hemoglobin analysis
Hemoglobin blood level
Human
Major clinical study
Molecular diagnosis
Prenatal diagnosis
Screening
Thailand
Very elderly
Hemoglobin E
Hemoglobin F
Adult
Aged
Allele specific polymerase chain reaction
Article
Beta thalassemia
Child
Codon
Controlled study
DNA sequencing
Gene deletion
Gene frequency
Gene mutation
Genetic counseling
Genetic heterogeneity
Genetic screening
Genotype
Hematological parameters
Hemoglobin analysis
Hemoglobin blood level
Human
Major clinical study
Molecular diagnosis
Prenatal diagnosis
Screening
Thailand
Very elderly