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

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.

Low and heterogeneous prevalence of glucose-6-phosphate dehydrogenase deficiency in different settings in Ethiopia using phenotyping and genotyping approaches

“…One of the unique differences may lie in the study population; the previous studies were all done on clinical patients [ 52 ]; possibly missing variants that infer protection from clinical malaria. The other possible explanation is that these studies only included single settings, possibly missing the strong regional patterns in the distribution of G6PD variants [ 20 ] and differences in ethnic background [ 43 , 54 , 55 ] as demonstrated in the present study. Apart from this the results from this study on the A376G variants (17.1%, 34/199) are in line with a recent finding from Jimma (23.3%) [ 52 ].…”

Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common monogenic diseases in human, involving about 400 million people worldwide 1 , 2 . G6PD deficiency is also known as favism (after intake of fava bean) because certain incentives such as beans or drugs can induce its occurrence.…”

Microscopic and submicroscopic Plasmodium infections in indigenous and non-indigenous communities in Colombia

“…The G6PD deficiency is distributed worldwide, however, its frequency varies among regions and ethnic groups. A previous report in malaria-endemic areas of Colombia located on the Pacific coast, found a frequency of G6PD deficiency of 6.56% [36], studies in indigenous populations (Amerindian) are lacking. Considering the high number of P. vivax infections found in these populations, there is a need for further evaluation of the frequency of G6PD deficiency in malaria-endemic areas in view that the primaquine treatment (14 days) is required for the radical cure.…”