An update on glucose-6-phosphate dehydrogenase deficiency in children from Brazzaville, Republic of Congo

Abstract

Background Malaria transmission-blocking anti-malarial drugs, such as primaquine, offers an effective strategy for reducing the incidence of falciparum malaria. However, this drug induces haemolytic anaemia among glucose-6-phosphate dehydrogenase (G6PD) deficient individuals. The distribution of G6PD deficiency in Brazzaville, Republic of Congo and the association of G6PD deficiency with haemoglobin levels and blood cell counts were investigated. Methods A total of 212 febrile children were recruited for this study. Plasmodium falciparum diagnosis was conducted by microscopy and nested PCR. Sanger sequencing was used to assess G6PD deficiency by detecting 202G>A (rs1050828) and 376A>G (rs1050829) single nucleotide polymorphisms. Results Two hundred and twelve children were successfully genotyped for G6PD variants. Overall, 13% (27/212) of the children were G6PD deficient and 25% (25/100) females were heterozygous (11 BA− and 14 A+A−). The remaining 160 children had a normal G6PD genotype. The mean red blood and mean platelet counts were significantly lower in hemizygous male (G6PD A−) participants than in normal male (G6PD A+ or B) participants ( p < 0.05). Conclusion This study gives an update on G6PD deficiency among Congolese children. Understanding the distribution of G6PD deficiency in other geographical regions is recommended before primaquine is adopted in the malaria control programme.

Effects of Single and Double Mutants in Human Glucose-6-Phosphate Dehydrogenase Variants Present in the Mexican Population: Biochemical and Structural Analysis

“…G6PD deficiency, a hereditary genetic defect, is the most common enzymopathy in humans, affecting more than 400 million people worldwide, indicating a global prevalence of 4.9% [4]. The prevalence of G6PD deficiency correlates with the geographical distribution of endemic areas malaria, and has been postulate that G6PD deficiency is an adaptative response as protection against severe forms of P. falciparum malaria and that inheriting the G6PD deficiency gene reduces the severity of malaria infection [5][6][7][8]. The clinical spectrum of this disease includes patients with no symptoms to those with neonatal hyperbilirubinemia resulting in kernicterus (which can be fatal), episodes of acute hemolysis due to the ingestion of exogenous agents (drugs, food, or infectious agents), or chronic nonspherocytic hemolytic anemia [3,9].…”

A síndrome G6PD e suas implicações no atendimento ao Paciente Odontopediátrico: Uma Revisão da literatura / G6PD deficiency and its implications for Pediatric Dental Care: A Literature Review

“…Sua área de maior prevalência coincide com regiões de malária. Alguns pesquisadores acham que a deficiência de G6PD oferece alguma vantagem de sobrevivência a pessoas com malária, doença em que um parasita invade as hemácias (GAMPIO GUEYE et al, 2019;WALSH et al, 2018). Rev.…”

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination

“…The high prevalence of G6PDd occurs in Sub-Saharan Africa [8,17,22] and Western Africa, the G6PDd range between 10 and 20% or more [16,23]. Taking into account this…”

“…The geographical distribution of these deficiency alleles is extensive and correlated with populations exposed historically to endemic malaria [8,16]. In addition, few studies support that the G6PD deficiency is an adaptative response providing protection against some severe forms of P. falciparum malaria [20][21][22].…”