Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis

Karnpean, Rossarin; Tepakhan, Wanicha; Suankul, Prame; Thingphom, Sitthikorn; Poonsawat, Apichaya; Thanunchaikunlanun, Naritthakarn; Ruangsanngamsiri, Rotsakorn; Jomoui, Wittaya

doi:10.3390/genes13081384

Cited by 3 publications

(1 citation statement)

References 24 publications

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“…More than 200 types of β-thalassemia gene mutations have been found at home and abroad, covering the promoter region, exon region, cut region, and 3’ untranslated region of the HBB gene. Epidemiological studies have demonstrated that there are significant geographical and ethnic differences in the types of gene mutations [ 7 , 31 , 32 ]. For example, HBB :c.79G>A carries 50% in India in South Asia, whereas it carries 0.1% in Pakistan [ 33 ].…”

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confidence: 99%

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis

et al. 2023

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Background The high prevalence of β-thalassemia indicates the severe medical burden in Guangxi province in China. Millions of thousands of prenatal women with healthy or thalassemia-carrying fetuses received an unnecessary prenatal diagnosis. We designed a prospective single-center proof-of-concept study to evaluate the utility of a noninvasive prenatal screening method in the stratification of beta-thalassemia patients before invasive procedures. Methods Next-generation and optimized pseudo-tetraploid genotyping-based methods were utilized in preceding invasive diagnosis stratification to predict the mater-fetus genotype combinations in cell-free DNA, which is from maternal peripheral blood. Populational linkage disequilibrium information with additional neighboring loci to infer the possible fetal genotype. The concordance of the pseudo-tetraploid genotyping with the gold standard invasive molecular diagnosis was used to evaluate the effectiveness of this method. Results 127 β-thalassemia carrier parents were consecutively recruited. The total genotype concordance rate is 95.71%. The Kappa value was 0.8248 for genotype combinations and 0.9118 for individual alleles. Conclusion This study offers a new approach to picking out the health or carrier fetus before invasive procedures. It provides valuable novel insight into patient stratification management on β-thalassemia prenatal diagnosis.

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Section: Discussionmentioning

confidence: 99%

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis

et al. 2023

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The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS)

Karnpean,

Tepakhan,

Rungruang

et al. 2024

Hemoglobin

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Genotype–Phenotype Correlation of β-Thalassemia in the Indian College Student Population: Insights and Challenges in Screening and Molecular Diagnosis

Samanta,

Bhattacharyya

2024

Biosci., Biotech. Res. Asia

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Thalassemia, a widespread global health issue stemming from abnormal haemoglobin levels, affects approximately 4.5% individuals worldwide. Despite advances in treatment, this study investigates β-thalassemia among 3,000 college students from West Bengal, India, examining genotype-phenotype correlations and silent carrier prevalence. Methodologically, blood analyses and DNA extraction were used to screen participants. PCR amplification of four primers covering the HBB gene, followed by amplicon purification and nucleotide sequencing, was employed. Bioinformatics tools, evolutionary conservation analysis, and machine learning-assisted variant categorization were utilized to provide insights for clinicians. Results revealed 385 thalassemia carriers among 2,984 individuals, exhibiting various traits including β-thalassemia, haemoglobin E-heterozygotes, haemoglobin D Punjab heterozygotes, hereditary persistent foetal haemoglobin (HPFH), and borderline βthalassemia traits. Significant phenotypic variations were observed. Genotype analysis identified six mutations, each associated with distinct ethnic prevalences and clinical presentations. The discussion addressed diagnostic challenges, emphasizing the need for accurate diagnosis through haemoglobin analysis and DNA testing. Pathogenicity assessments provided insights into mutation impact. Overall, this study contributes to β-thalassemia management by offering guidance for research and clinical practice.

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Genetic Background Studies of Eight Common Beta Thalassemia Mutations in Thailand Using β-Globin Gene Haplotype and Phylogenetic Analysis

Cited by 3 publications

References 24 publications

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis

Integration of targeted sequencing and pseudo-tetraploid genotyping into clinically assisted decision support for β-thalassemia invasive prenatal diagnosis

The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS)

Genotype–Phenotype Correlation of β-Thalassemia in the Indian College Student Population: Insights and Challenges in Screening and Molecular Diagnosis

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