Publications by authors named "S Fucharoen"
Inter-individual variability in drug responses is significantly influenced by genetic factors, underscoring the importance of population-specific pharmacogenomic studies to optimize clinical outcomes. In this study, we analyzed whole genome sequencing data from 949 unrelated Thai individuals and conducted an in-depth analysis of 3239 genes involved in drug pharmacokinetics, pharmacodynamics, or immune-mediated adverse drug reactions. We identified 43 single nucleotide polymorphisms (SNPs), 134 diplotypes, and 15 human leukocyte antigen (HLA) alleles, all with moderate to high clinical significance.
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- - Recent research shows that gut microbiota significantly influences health, particularly in thalassemia patients who undergo regular blood transfusions, leading to iron buildup that may modify their intestinal microbiota and increase infection risks.
- - The study analyzed fecal microbiota of 70 non-transfusion-dependent β-thalassemia/HbE patients compared to 30 healthy controls, revealing that thalassemic patients had lower bacterial diversity and a different community structure.
- - Specific beneficial bacteria producing short-chain fatty acids were less prevalent in patients, while harmful bacteria linked to gut issues were more common, indicating these microbiota changes could serve as markers for increased ferritin levels and potentially complicate treatment of thalassemia-related conditions.
Objectives: To describe rare genetic interactions of α-thalassemia alleles causing Hb H disease and Hb Bart's hydrops fetalis which could lead to diagnostic errors in a routine practice.
Methods: Hematological and molecular characterization were carried out in a Thai family with a risk of having fetus with Hb Bart's hydrops fetalis.
Results: Both parents were found to be the thalassemia intermedia patients associated with unusual forms of Hb H disease.
Background And Aims: To update the molecular characteristics of α-thalassemia in northeast Thailand, the molecular basis and genetic interactions of Hb H disease were examined in a large cohort of patients.
Materials And Methods: A study was done on 1,170 subjects with Hb H disease and various genetic interactions encountered during 2009-2023. Hb and DNA analyses were carried out.
Hemoglobin E (HbE), a common variant in Southeast Asian populations, results from a G to A substitution at codon 26 of the HBB gene, causing abnormal Hb and mild β-thalassemia-like symptoms. Here, we derived an induced pluripotent stem cell (iPSC) line, named MUi033-A, from a male homozygous for HbE. The iPSC line demonstrates a normal karyotype and embryonic stem cell-like properties including pluripotency gene expression, and tri-lineage differentiation potential.
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