Optimizing G6PD testing for Plasmodium vivax case management and beyond: why sex, counseling, and community engagement matter

Wellcome Open Research

article

Cindy S Chu¹  Germana Bancone¹  Maureen Kelley³  Nicole Advani⁴  Gonzalo J Domingo⁴  Eva M Cutiongo-de la Paz⁵  Nicole van der Merwe⁷  Jessica Cohen⁴  Emily Gerth-Guyette⁴ 

[1] Shoklo Malaria Research Unit, Mahidol Oxford Tropical Medicine Research Unit, Faculty of Tropical Medicine, Mahidol University;Centre for Tropical Medicine and Global Health, Nuffield Department of Medicine, University of Oxford;The Ethox Centre and Wellcome Centre for Ethics and Humanities, Nuffield Department of Population Health, University of Oxford;PATH;Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila;Philippine Genome Center, University of the Philippines System;Division of Chemical Pathology, Department of Pathology, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg Academic Hospital

关键词: G6PD deficiency;    Plasmodium vivax;    neonatal hyperbilirubinaemia;    gender;    sex;    disparity;    G6PD testing;    primaquine;    tafenoquine;    genetic counselling;    haemolysis;    G6PD heterozygous females;   

DOI  :  10.12688/wellcomeopenres.15700.2

学科分类：内科医学

来源: Wellcome

【 摘 要 】

Safe access to the most effective treatment options for Plasmodium vivax 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 P. vivax 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  P. vivax, 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.

【 授权许可】

CC BY