G6PD deficiency alleles in a malaria-endemic region in the Western Brazilian Amazon

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Dombrowski, Jamille G. ; Souza, Rodrigo M. ; Curry, Jonathan ; Hinton, Laura ; Silva, Natercia R. M. ; Grignard, Lynn ; Goncalves, Ligia A. ; Gomes, Ana Rita ; Epiphanio, Sabrina ; Drakeley, Chris ; Huggett, Jim ; Clark, Taane G. ; Campino, Susana ; Marinho, Claudio R. F.

• Document type: Journal article
• Source: Malaria Journal; v. 16, JUN 15 2017.
• Web of Science Citations: 5

Abstract

Background: Plasmodium vivax parasites are the predominant cause of malaria infections in the Brazilian Amazon. Infected individuals are treated with primaquine, which can induce haemolytic anaemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient individuals and may lead to severe and fatal complications. This X-linked disorder is distributed globally and is caused by allelic variants with a geographical distribution that closely reflects populations exposed historically to endemic malaria. In Brazil, few studies have reported the frequency of G6PD deficiency (G6PDd) present in malaria-endemic areas. This is particularly important, as G6PDd screening is not currently performed before primaquine treatment. The aim of this study was to determine the prevalence of G6PDd in the region of Alto do Jurua, in the Western Brazilian Amazon, an area characterized by a high prevalence of P. vivax infection. Methods: Five-hundred and sixteen male volunteers were screened for G6PDd using the fluorescence spot test (Beutler test) and CareStart (TM) G6PD Biosensor system. Demographic and clinical-epidemiological data were acquired through an individual interview. To assess the genetic basis of G6PDd, 24 SNPs were genotyped using the Kompetitive Allele Specific PCR assay. Results: Twenty-three (4.5%) individuals were G6PDd. No association was found between G6PDd and the number of malaria cases. An increased risk of reported haemolysis symptoms and blood transfusions was evident among the G6PDd individuals. Twenty-two individuals had the G6PDd A(-) variant and one the G6PD A(+) variant. The Mediterranean variant was not present. Apart from one polymorphism, almost all SNPs were monomorphic or with low frequencies (0-0.04%). No differences were detected among ethnic groups. Conclusions: The data indicates that similar to 1/23 males from the Alto do Jurua could be G6PD deficient and at risk of haemolytic anaemia if treated with primaquine. G6PD A(-) is the most frequent deficiency allele in this population. These results concur with reported G6PDd in other regions in Brazil. Routine G6PDd screening to personalize primaquine administration should be considered, particularly as complete treatment of patients with vivax malaria using chloroquine and primaquine, is crucial for malaria elimination. (AU)

• FAPESP's process: 12/04755-3 - Association of gestational malaria with intrauterine growth restriction and low birth weight in the far-western Brazilian Amazon
• Grantee: Jamille Gregório Dombrowski
• Support Opportunities: Scholarships in Brazil - Doctorate (Direct)
• FAPESP's process: 14/20451-0 - The role of endothelial cells in the immunopathogenesis of murine malaria-associated ALI/ARDS: effects and mechanisms
• Grantee: Sabrina Epiphanio
• Support Opportunities: Regular Research Grants
• FAPESP's process: 14/09964-5 - The role of inflammasomes in the pathogenesis of malaria during pregnancy: effects and mechanisms
• Grantee: Cláudio Romero Farias Marinho
• Support Opportunities: Regular Research Grants
• FAPESP's process: 15/06106-0 - The role of inflammasomes in the pathogenesis of malaria during pregnancy: effects and mechanisms
• Grantee: Cláudio Romero Farias Marinho
• Support Opportunities: Research Grants - Visiting Researcher Grant - International
• FAPESP's process: 16/13465-0 - Plasmodium vivax genomic analysis: identification of relapses and association with pregnancy adverse outcome in women from the Brazilian Amazon
• Grantee: Jamille Gregório Dombrowski
• Support Opportunities: Scholarships abroad - Research Internship - Doctorate (Direct)