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Circulating biomarkers associated with pediatric sickle cell disease.
Front Mol Biosci
December 2024
Department of Microbiology, Biochemistry and Immunology, Morehouse School of Medicine, Atlanta, GA, United States.
Introduction: Sickle cell disease (SCD) is a genetic blood disorder caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin S (HbS), causing red blood cells to deform into a sickle shape. These deformed cells can block blood flow, leading to complications like chronic hemolysis, anemia, severe pain episodes, and organ damage.
View Article and Find Full Text PDFHaplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.
Adv Sci (Weinh)
December 2024
Innovation Center for Diagnostics and Treatment of Thalassemia, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, 510515, China.
Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.
View Article and Find Full Text PDFPharmacogenomic landscape of the Thai population from genome sequencing of 949 individuals.
Sci Rep
December 2024
National Biobank of Thailand, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Pathum Thani, Thailand.
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.
View Article and Find Full Text PDFHotspots and status of Fetal Alpha-Thalassemia from 2009 to 2023: a bibliometric analysis.
Front Pediatr
December 2024
Maternity and Child Health Care of Guangxi Zhuang Autonomous Region, Nanning, China.
Objective: to evaluate the research status and development hotspots of fetal α-thalassemia by quantitatively analyzing the diagnostic status, key areas, related management measures and prospects of the disease by bibliometrics.
Methods: The global literature on fetal α-thalassemia and severe α-thalassemia from 2009-2023 in the Web of Science Core Collection (WOSCC) was visually analyzed by VOSviewer and CiteSpace.
Results: (1) The examination of the quantity of publications concerning fetal α-thalassemia indicates a rising tendency prior to 2018, followed by a decrease after 2018.
Prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children: A cross-sectional study.
J Family Med Prim Care
November 2024
Department of Oral Medicine, Diagnosis and Radiology, Yogita Dental College and Hospital, Khed, Ratnagiri, Maharashtra, India.
Background: Thalassemia is a hemoglobinopathy-associated genetic disease resulting due to defective synthesis of globin chains, causing defects in the skeletal and oral structures.
Aim: This cross-sectional study was designed to analyze the prevalence of dental caries, oral health status, malocclusion status, and dental treatment needs in thalassemic children.
Materials And Methods: Institutional Ethical committee clearance was obtained before starting the study.
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