Glucose-6-phosphate dehydrogenase deficiency prevalence and genetic variants in malaria endemic areas of Colombia

Sócrates Herrera Valencia,María Isabel Arce-Plata,Judith Recht,Myriam Arévalo-Herrera,Iván Darío Ocampo

doi:10.1186/s12936-016-1343-1

Sócrates Herrera Valencia, María Isabel Arce-Plata + Show 3 more

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https://doi.org/10.1186/s12936-016-1343-1

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Abstract

BackgroundGlucose 6-phosphate dehydrogenase (G6PD) is an enzyme involved in prevention of cellular oxidative damage, particularly protecting erythrocytes from haemolysis. An estimated 400 million people present variable degrees of inherited G6PD deficiency (G6PDd) which puts them at risk for developing haemolysis triggered by several risk factors including multiple drugs and certain foods. Primaquine (PQ) is a widely used anti-malarial drug that can trigger haemolysis in individuals with G6PDd. Intensification of malaria control programmes worldwide and particularly malaria elimination planning in some regions recommend a more extensive use of PQ and related drugs in populations with different G6PDd prevalence. This a preliminary study to assess the prevalence of G6PDd in representative malaria endemic areas of Colombia by measuring G6PD phonotype and genotypes.MethodsVolunteers (n = 426) from four malaria endemic areas in Colombia (Buenaventura, Tumaco, Tierralta and Quibdo) were enrolled. Blood samples were drawn to evaluate G6PD enzymatic activity by using a quantitative G6PD test and a subset of samples was analysed by PCR–RFLP to determine the frequency of the three most common G6PD genotypic variants: A−, A+ and Mediterranean.ResultsA total of 28 individuals (6.56 %) displayed either severe or intermediate G6PDd. The highest prevalence (3.51 %) was in Buenaventura, whereas G6PDd prevalence was lower (<1 %) in Tierralta and Quibdo. G6PD A alleles were the most frequent (15.23 %) particularly in Buenaventura and Tumaco. Overall, a high frequency of G6PD A− genotype, followed by A+ genotype was found in the analysed population.ConclusionsG6PDd based on enzymatic activity as well as G6PD A allelic variants were found in malaria-endemic populations on the Pacific coast of Colombia, where most of malaria cases are caused by Plasmodium vivax infections. These infections are treated for 14 days with PQ, however there are no official reports of PQ-induced haemolytic crises. Further assessment of G6PDd prevalence in malaria endemic areas in Colombia is crucial in view of possible mass drug administration for malaria elimination in these regions, as well as implementation of appropriate G6PDd diagnostic methods.

Highlights

Glucose 6-phosphate dehydrogenase (G6PD) is an enzyme involved in prevention of cellular oxida‐ tive damage, protecting erythrocytes from haemolysis
The G6PD locus is located on chromosome X (Xq28) and displays a great polymorphism with ~190 mutations identified coding for ~400 biochemical or allelic enzyme variants [5,6,7], some of which lead to functional deficiencies (G6PDd) that are transmitted as X-linked traits [8,9,10]
This study aimed to determine the prevalence of both phenotypic and genotypic G6PD deficiency (G6PDd) in representative malaria endemic areas of Colombia located on the Pacific coast where P. vivax malaria is highly prevalent in endemic communities, many of which are of African descent

Summary

Introduction

Glucose 6-phosphate dehydrogenase (G6PD) is an enzyme involved in prevention of cellular oxida‐ tive damage, protecting erythrocytes from haemolysis. Intensification of malaria control programmes worldwide and particu‐ larly malaria elimination planning in some regions recommend a more extensive use of PQ and related drugs in popu‐ lations with different G6PDd prevalence This is a preliminary study to assess the prevalence of G6PDd in representa‐ tive malaria endemic areas of Colombia by measuring G6PD phonotype and genotypes. The G6PD locus is located on chromosome X (Xq28) and displays a great polymorphism with ~190 mutations identified coding for ~400 biochemical or allelic enzyme variants [5,6,7], some of which lead to functional deficiencies (G6PDd) that are transmitted as X-linked traits [8,9,10]. Class II variant is produced by a change at position 563 in exon VI, corresponding to a transition from cytosine to thymine (563 C>T); it is considered a more severe variant, presenting with

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