Safe access to the most effective treatment options for malaria are limited by the absence of accurate point-of-care testing to detect glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common human genetic disorder. G6PD-deficient patients are at risk of life-threatening hemolysis when exposed to 8-aminoquinolines, the only class of drugs efficacious against hypnozoites. Until recently, only qualitative tests were available in most settings. These can identify patients with severe G6PD deficiency (mostly male) but not patients with intermediate G6PD deficiency (always female). This has led to and reinforced a gap in awareness in clinical practice of the risks and implications of G6PD deficiency in females-who, unlike males, can have a heterozygous genotype for G6PD. Increasing recognition of the need for radical cure of , first for patients' health and then for malaria elimination, is driving the development of new point-of-care tests for G6PD deficiency and their accessibility to populations in low-resource settings. The availability of user-friendly, affordable, and accurate quantitative point-of-care diagnostics for the precise classification of the three G6PD phenotypes can reduce sex-linked disparities by ensuring safe and effective malaria treatment, providing opportunities to develop supportive counseling to enhance understanding of genetic test results, and improving the detection of all G6PD deficiency phenotypes in newborns and their family members.
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http://dx.doi.org/10.12688/wellcomeopenres.15700.2 | DOI Listing |
Int J Neonatal Screen
December 2024
Laboratory of Genomic, Epigenetics, Precision and Predictive Medicine, School of Medicine, Mohammed VI University of Sciences and Health, Casablanca 82403, Morocco.
Unlabelled: Newborn screening (NBS) represents an important public health measure for the early detection of specified disorders; such screening can prevent disability and death, not only from metabolic disorders but also from endocrine, hematologic, immune, and cardiac disorders. Screening for critical congenital conditions affecting newborns' health is a great challenge, especially in developing countries such as Morocco, where NBS program infrastructure is lacking. In addition, the consanguinity rate is high in Morocco.
View Article and Find Full Text PDFFront Pharmacol
December 2024
Department of Medical Biochemistry, School of Medicine, Koc University, Istanbul, Türkiye.
Aging is influenced by cellular senescence mechanisms that are associated with oxidative stress. Oxidative stress is the imbalance between antioxidants and free radicals. This imbalance affects enzyme activities and causes mitochondrial dysfunction.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Faculty of Healthcare Sciences, Eastern University of Sri Lanka, Chenkaladi, Sri Lanka.
Background: Naphthalene is an aromatic hydrocarbon that potentially produces methemoglobinaemia but rarely causes hemolysis, especially in children with underlying glucose-6-phosphate dehydrogenase deficiency. Although ingestion of a single moth ball by an older child may not be life threatening, it can be fatal if ingested by a toddler.
Case Presentation: A 2-year-old Singhalese boy developed acute severe hemolysis and methemoglobinaemia following ingestion of a mothball.
Malar J
December 2024
Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.
Background: To eliminate malaria by 2035, Brazil must address Plasmodium vivax. Previously, first-line treatment was chloroquine plus 7-day primaquine (PQ) without glucose-6-phosphate dehydrogenase (G6PD) deficiency testing. In 2021, point-of-care quantitative G6PD testing and single-dose tafenoquine (TQ) were piloted in two municipalities.
View Article and Find Full Text PDFDiabetes Res Clin Pract
December 2024
Leumit Research Institute, Leumit Health Services, Tel-Aviv, Israel; Adelson School of Medicine, Ariel University, Ariel, Israel.
Aims: To assess the impact of Glucose-6-phosphate dehydrogenase (G6PD) deficiency, an enzymatic deficiency prevalent in individuals of African or Asian descent, on Hemoglobin A1c (HbA1c) levels, diabetes medication purchases, and the cumulative incidence of diabetes related complications.
Methods: A large cohort study was conducted within a national health organization, comparing 3,913 G6PD-deficient patients to a matched control group without G6PD deficiency over two decades. The main measures and outcomes were the HbA1c levels, patterns of diabetes medication purchases, and the incidence of severe diabetes-related complications.
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