Glucose-6-pphosphate dehydrogenase deficiency allelic variants and their prevalence in malaria patients in Eritrea

Abstract

IntroductionGlucose 6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy with a relatively high frequency in malaria-endemic regions. In Eritrea, there is scanty knowledge of G6PD deficiency. The aim of the study was to characterize and determine the prevalence of four common G6PD allelic variants.MethodsThree hundred and fourteen dried blood spot samples from unrelated microscopically diagnosed malaria patient Eritrean ethnic groups living in five zobas (regions) of Eritrea were analysed by PCR-RFLP method to identify the G6PD B, G6PD A (A376G), G6PD A-(G202A), and G6PD Mediterranean (C563T) variants. To confirm the RFLP results, samples positive for A376G but negative for G202A variants were subjected to Sanger sequencing and a subset of PCR products (exon 5) directly sequenced to identify A376G and other mutations.ResultsFor G6PD genotyping, G6PD B was detected in 87.5% and A376G detected in 12.5% of malaria patients, whereas G202A and C563T were absent. Bivariate Statistical analysis showed a statistically significant association between G6PD genotypes and zoba (P < 0.004 < 0.05). Sequencing revealed the expected A376G variant. In exon 5, four common (A376G) mutations, three uncommon mutations rs782669677 (535G→A) and one potentially new mutation (451G→C), relative to the reference, mRNA NM_001042351 were detected. Bioinformatic analysis of these mutations' potential functional impact suggests minimal effect on protein function.ConclusionThis is the first report indicating that G6PD B and G6PD A genotypes are prevalent in Eritrea. Similar findings were reported in neighboring countries. Further studies including phenotype analysis are needed to corroborate the observed results.

Prevalence of glucose-6-phosphate dehydrogenase deficiency (G6PDd), CareStart qualitative rapid diagnostic test performance, and genetic variants in two malaria-endemic areas in Sudan

“…The reported prevalence in the current study is broadly consistent with results from Ethiopia, Egypt and Eritrea [ 31 , 40 , 30 ]. However, this G6PDd prevalence is lower than those reported from West African settings, including Senegal (12%) [ 41 ], Sierra Leone (11.3%) [ 42 ] and Burkina Faso (9.3%) [ 43 ].…”

“…While extensive studies have been done throughout Southeast Asia to examine the prevalence and diversity of G6PD deficiencies [ 27 ], studies reporting data from Africa are emerging and limited. Studies to date have assessed G6PD in Ghana [ 28 ], Mauritania [ 29 ], Eritrea [ 30 ], and Ethiopia [ 31 , 32 ]. However, there have been no detailed studies from Sudan.…”

Dosage Compensation in Females with X-Linked Metabolic Disorders

“…To date, over 230 mutations in the G6PD gene have been described (mostly singlebase missense mutations). Most of them result in reduced enzyme activity but not in a completely inactive enzyme which would be fatal to developing embryos [174][175][176].…”

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

“…Exames genéticos são feitos às vezes em uma família para identificar a mutação em mulheres portadoras, como a mãe, uma irmã ou uma filha de um homem afetado (TSEGHEREDA et al, 2018). A deficiência de G6PD é encontrada em todo o mundo, mas é mais comum em descendentes de populações da África, do Mediterrâneo e do sudeste asiático.…”

“…O portador dessas deficiências tem a capacidade reduzida de produzir enzimas, como a G6PD, com funcionamento adequado para degradar a demanda de agentes oxidantes à célula (NÓBREGA-PEREIRA et al, 2016). A insuficiência da atividade biológica da enzima G6PD pode desencadear uma anemia hemolítica (TSEGHEREDA et al, 2018). Os indivíduos podem herdar mutações genéticas de enzimas eritrocitárias as quais dificultam as hemácias em condições fisiológicas adequadas de realizarem suas funções, por vezes levando a hemólise (MINUCCI et al, 2012).…”