Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/hmg/2.1.81 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure.
Front Pharmacol
October 2022
Department of Molecular Tropical Medicine and Genetics, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
remains the malaria species posing a major threat to human health worldwide owing to its relapse mechanism. Currently, the only drugs of choice for radical cure are the 8-aminoquinolines (primaquine and tafenoquine), which are capable of killing hypnozoites and thus preventing relapse. However, the therapeutic use of primaquine and tafenoquine is restricted because these drugs can cause hemolysis in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency.
View Article and Find Full Text PDFSeven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.
Hum Genomics
October 2021
Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar.
Background: Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is the most common red cell enzymopathy in the world. In Qatar, the incidence of G6PDD is estimated at around 5%; however, no study has investigated the genetic basis of G6PDD in the Qatari population yet.
Methods: In this study, we analyzed whole-genome sequencing data generated by the Qatar Genome Programme for 6045 Qatar Biobank participants, to identify G6PDD variants in the Qatari population.
Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population.
Malar J
January 2021
Oxidation in Red Cell Disorders Research Unit, Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, 154, Rama I Road, Patumwan District, 10330, Bangkok, Thailand.
Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study.
Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited.
Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.
J Transl Med
September 2012
School of Cellular and Molecular Medicine, Medical Sciences Building, University of Bristol, University Walk, Bristol BS8 1TD, UK.
Background: Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.
View Article and Find Full Text PDFTwo new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.
Blood Cells Mol Dis
February 2013
Laboratoire d'hématologie moléculaire et cellulaire, Institut Pasteur de Tunis, 13 place Pasteur, Tunis-Le-Belvédère, Tunisia.
We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!