A5023479727- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Erythrocyte Function and Pathophysiology
- Prenatal Screening and Diagnostics
- Blood groups and transfusion
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- RNA modifications and cancer
- Cancer-related gene regulation
- Salmonella and Campylobacter epidemiology
- Genomics and Rare Diseases
- Kruppel-like factors research
- Trace Elements in Health
- Genetic Syndromes and Imprinting
- Forensic and Genetic Research
- Genetic diversity and population structure
- Metabolism and Genetic Disorders
- Advanced biosensing and bioanalysis techniques
- Cardiac electrophysiology and arrhythmias
- Nutrition, Genetics, and Disease
- Acute Myeloid Leukemia Research
- Pharmacogenetics and Drug Metabolism
- FOXO transcription factor regulation
- Biosensors and Analytical Detection
- Eosinophilic Disorders and Syndromes
Ministry of Public Health
2018-2024
Department of Medical Sciences
2018-2024
Mahidol University
2011-2023
National Institute of Health of Thailand
2018
National Institute of Diabetes and Digestive and Kidney Diseases
2009-2010
National Institutes of Health
2008-2010
Institute of Science and Technology
2007
Institute for Research and Development
2007
Abstract β‐Thalassemia intermediate patients show a remarkable clinical heterogeneity. We examined the phenotypic diversity of 950 β‐thalassemia/Hb E in an attempt to construct system for classifying disease severity. A novel scoring based on six independent parameters, hemoglobin level, age at presentation, receiving first blood transfusion, requirement spleen size, and growth development, was able separate into three distinctive severity categories: mild, moderate, severe courses. This...
There is considerable ethno-linguistic and genetic variation among human populations in Asia, although tracing the origins of this diversity complicated by migration events. Thailand at center Mainland Southeast Asia (MSEA), a region within that has not been extensively studied. Genetic substructure may exist Thai population, since waves from southern China throughout its recent history have contributed to substantial gene flow. Autosomal SNP data were collated for 438,503 markers 992...
Abstract Background Patients with Hb E/β 0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing severity, we conducted a two-stage genome scan groups of 207 mild and 305 severe unrelated patients from Thailand normal α-globin genes. Methods First, estimated compared the allele frequencies approximately 110,000 gene-based single nucleotide polymorphisms (SNPs) pooled DNAs different severity groups. The 756 SNPs that showed reproducible...
We evaluated the contribution of 67 single nucleotide polymorphisms (SNPs) within β‐globin gene cluster to disease severity in groups 207 mild‐ and 305 severe unrelated patients from Thailand with Hemoglobin E (HbE)/β 0 ‐thalassemia normal α‐globin genes. Our analysis showed that these SNPs comprise two distinct linkage disequilibrium blocks, one containing other extending locus control region (LCR) δ gene, which are separated by a recombination hotspot narrow promoter. Forty‐five interval...
Defective hemoglobin production and ineffective erythropoiesis contribute to the pathophysiology of thalassemia syndromes. Previous studies in field mainly focused on severe forms thalassemia, such as β-thalassemia major, while mechanisms underlying pathogenesis other syndromes remain largely unexplored. The current study aimed investigate intrinsic pathophysiological properties erythroid cells derived from most common diseases, including α-thalassemia (hemoglobin H H-Constant Spring...
A bstract : Hemoglobin E (Hb E)‐β‐thalassemia patients display a range of clinical severities, from nearly asymptomatic to transfusion‐dependent thalassemia major. Given this heterogeneity, additional genetic factors modifying disease severity remain be discovered. Association studies are being conducted elucidate the role polymorphisms as modifiers in Hb E‐β‐thalassemia patients. Using strict scoring criteria, 1060 were categorized into mild, moderate, and severe groups. Taking candidate...
Reactivating of fetal hemoglobin (HbF; α2γ2) can ameliorate the severity β-thalassemia disease by compensating for adult deficiency in patients. Previously, microarray analysis revealed that zinc finger protein (ZNF)802 (also known as Juxta-posed with another gene-1 (JAZF1)) was upregulated human erythroblasts derived from peripheral blood compared liver-derived cells, implying a potential role HbF repressor. However, ZNF802 induced lentiviral shRNA β0-thalassemia/hemoglobinE had no effect...
A key event in human development is the establishment of erythropoietic progenitors bone marrow, which accompanied by a fetal-to-adult switch hemoglobin expression. Understanding this could lead to medical application, notably treatment sickle cell disease and β-thalassemia. The changes gene expression progenitor cells as they migrate from fetal liver colonize marrow are still rather poorly understood, primary (FL) tissues difficult obtain.We obtained FL tissue adult peripheral blood (AB)...
Anemia in β-thalassemia is associated with ineffective erythropoiesis and a shortened lifespan of erythroid cells. The limited differentiation β-thalassemic erythroblasts has been documented, but the characteristic feature terminal maturation its physiological relevance are not clearly described β-thalassemias. Here, red blood cell reticulocyte cellular characteristics were determined patients β0-thalassemia/HbE comparison to iron deficiency anemia healthy normal subjects. Severely affected...
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 3239 genes involved pharmacokinetics, pharmacodynamics, or immune-mediated adverse reactions. We identified 43 single nucleotide polymorphisms (SNPs), 134 diplotypes,...
Induction of fetal hemoglobin (HbF) ameliorates the clinical severity β-thalassemias. Histone methyltransferase LSD1 enzyme removes methyl groups from activating chromatin mark histone 3 lysine 4 at silenced genes, including γ-globin genes. inhibitor RN-1 induces HbF levels in cultured human erythroid cells. Here, HbF-inducing activity was investigated progenitor cells derived β0-thalassemia/ E (HbE) patients. The significant and reproducible increases transcript expression upon treatment...