Newborn Screening for G6PD Deficiency in Xiamen, China: Prevalence, Variant Spectrum, and Genotype-Phenotype Correlations [PDF]
Frontiers in Genetics, 2021 Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common inherited enzymatic defect. The purpose of this study was to evaluate the profile of G6PD deficiency and investigate the factors associated with the accuracy of newborn screening
Xudong Wang, Haixia Zhang, Qiwei Guo
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Expanded Clinical Pharmacogenetics Implementation Consortium Guideline for Medication Use in the Context of G6PD Genotype [PDF]
Clinical Pharmacology and Therapeutics, 2023 Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia in the setting of oxidative stress, which can be caused by medication exposure. Regulatory agencies worldwide warn against the use of certain medications in persons with G6PD deficiency, but in many cases, this information is conflicting, and ...
Roseann S Gammal +2 more
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Genotype-Phenotype Correlation of G6PD Mutations among Central Thai Children with G6PD Deficiency [PDF]
Anemia, 2021 Background. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common X-linked inherited erythroenzymopathy in Thailand. The clinical and hematological manifestations of G6PD deficiency are variable. Objective.
Boonchai Boonyawat +3 more
doaj +3 more sources
Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania [PDF]
Pathogens, 2021 Plasmodium vivax malaria is endemic in Mauritania. Individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop acute hemolytic anemia when exposed to 8-aminoquinoline antimalarial drugs, which are indispensable for a complete cure ...
Oum Kelthoum Mamadou Djigo +9 more
doaj +4 more sources
Human Genomics, 2023 Background G6PD deficiency is a common inherited disorder worldwide and has a higher incidence rate in southern China. Many variants of G6PD result from point mutations in the G6PD gene, leading to decreased enzyme activity.
Ziyan Li +9 more
doaj +3 more sources
HbA1c underperforms in identifying abnormal glucose tolerance in the presence of G6PD deficiency: Insight from the Africans in America study. [PDF]
PLoS ONEG6PD deficiency (G6PD-D) variants are associated with lower hemoglobin A1c (HbA1c) concentrations, raising concerns about the diagnostic efficacy of HbA1c for abnormal glucose tolerance (Abnl-GT) in Africans, in whom risk of G6PD-D and Abnl-GT is high ...
Amy R Bentley +8 more
doaj +2 more sources
Distribution of G6PD deficiency genotypes among Southeast Asian populations [PDF]
Tropical Medicine and Health, 2021 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a group of X-linked, hereditary genetic disorders caused by mutations in the G6PD gene and results in functional variants of about 400 biochemical and clinical phenotypes.
Indah S. Tantular, Fumihiko Kawamoto
doaj +3 more sources
Prevalence and distribution of G6PD deficiency: implication for the use of primaquine in malaria treatment in Ethiopia [PDF]
Malaria Journal, 2019 Background G6PD enzyme deficiency is a common enzymatic X-linked disorder. Deficiency of the G6PD enzyme can cause free radical-mediated oxidative damage to red blood cells, leading to premature haemolysis.
Eugenia Lo +7 more
doaj +3 more sources
Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania. [PDF]
PLoS Neglected Tropical DiseasesBackgroundBoth Duffy blood antigen expression and G6PD deficiency are known to be associated with ethnic origin. Updates in epidemiological data on the prevalence of polymorphisms in these two human genes are key information for guiding national programs
Albin Fontaine +5 more
doaj +2 more sources
Children, 2023 Glucose-6-phosphate dehydrogenase (G6PD) deficiency and polymorphism in uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) were associated with significant neonatal hyperbilirubinemia (NHB) and increased risk for kernicterus. However, quantitative
Arieh Riskin, Adel Shalata
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