Molecular surveillance of Glucose-6-phosphate dehydrogenase (G6PD) deficiency in a population from the municipality of Oiapoque, Amapá

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common genetic enzymopathy in world, of inherited nature, recessive and linked to the X chromosome, affecting more than 500 million people in the world. Widely distributed in regions of the Mediterranean, Asia and Africa, with more than 400 variants already described in the literature, all related to enzymatic deficiency with variable intensity, depending on the genetic variant that is involved. In malaria-endemic regions, it is necessary to quickly diagnose G6PD before treatment with antimalarials such as Primaquine (PQ) and Tafenoquine, which are potent drugs that cause oxidative stress in blood cells. (RBC) and subsequent hemolytic anemia. Thus, considering that antimalarials are important factors that induce oxidative stress and that there is a lack of information about G6PD deficiency in malaria-endemic areas in Brazil, the study aims to achieve the stated. It is intended to analyze 500 samples of peripheral blood from volunteer individuals in the municipality of study, which are already archived in the biorepository of the Research Laboratory of Parasitic Diseases of the Oswaldo Cruz Institute for the performance of molecular tests. As a methodological strategy, this project will use PCR-RFLP, tracking genomic regions for SNPs located in the G6PD gene. All molecular data generated will be correlated with previous information on variants already described in the literature. Molecular monitoring of pathogenic variants of G6PD is necessary to provide information on public health measures, especially the need to perform screening tests for G6PD before administration of oxidant antimalarials in regions of high endemicity.

Project details

Epidemiology
Genetics and Genomics
Surveillance

Nov 2022

Brazil