Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan

Kempińska-Podhorodecka, Agnieszka; Knap, Oktawian; Drozd, Arleta; Kaczmarczyk, Mariusz; Parafiniuk, Mirosław; Parczewski, Miłosz; Milkiewicz, Małgorzata

doi:10.1016/j.bcmd.2012.10.003

Cited by 6 publications

(7 citation statements)

References 39 publications

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“…Few studies reported G6PD A- (202GA) frequency estimates considerably lower than those generally found in sub-Saharan Africa [ 38 ] ranging from 0 to 1% [ 39 , 40 ] confirming a recent geostatistical model-based map that predicted a 1.0% prevalence [ 41 ]. In agreement with previous reports from neighboring countries [ 42 ], the African A- (202GA) and the Mediterranean (563CT) variants revealed no mutations in the present study. G6PDd due to the two most common mutations appears absent or of very low prevalence in the region.…”

Section: Discussionsupporting

confidence: 94%

Submicroscopic carriage of Plasmodium falciparum and Plasmodium vivax in a low endemic area in Ethiopia where no parasitaemia was detected by microscopy or rapid diagnostic test

Tadesse

Pett

Baidjoe

et al. 2015

Malar J

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BackgroundMotivated by the success in malaria control that was documented over the last decade Ethiopia is aiming at malaria elimination by 2020 in selected districts. It is currently unknown if asymptomatic, submicroscopic malaria parasite carriage may form a hurdle to achieve elimination. The elimination effort may further be complicated by possible glucose-6 phosphate dehydrogenase (G6PD) deficiency which would hinder the use of 8-aminoquinolines in the elimination efforts.MethodIn February 2014 a community-based cross-sectional survey was conducted in Malo, southwest Ethiopia. Finger-prick blood samples (n = 555) were tested for presence of Plasmodium falciparum and Plasmodium vivax with microscopy, rapid diagnostic test (RDT), and nested polymerase chain reaction (nPCR). Multiplicity of P. falciparum infections was determined based on genotyping the polymorphic merozoite surface protein-2 (MSP-2) gene. Individuals were also genotyped for mutations in the gene that produces G6PD.ResultsAll study participants were malaria infection negative by microscopy and RDT. Nested PCR revealed P. falciparum mono-infection in 5.2% (29/555), P. vivax mono-infection in 4.3% (24/555) and mixed infection in 0.2% (1/555) of individuals. All parasitemic individuals were afebrile (axillary temperature <37.5°C). None of the study participants carried mutations for the G6PD African A-(202GA) and Mediterranean (563CT) variants. All infections, except one, were single-clone infection by MSP-2 genotyping.ConclusionThe detection of a substantial number of subpatent malaria infections in an apparently asymptomatic population without evidence for malaria transmission by conventional diagnostics raises questions about the path to malaria elimination. It is currently unknown how important these infections are for sustaining malaria transmission in the study sites. The absence of G6PD deficiency indicates that 8-aminoquinolines may be safely deployed to accelerate elimination initiatives.

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Section: Discussionsupporting

confidence: 94%

Submicroscopic carriage of Plasmodium falciparum and Plasmodium vivax in a low endemic area in Ethiopia where no parasitaemia was detected by microscopy or rapid diagnostic test

Tadesse

Pett

Baidjoe

et al. 2015

Malar J

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“…Few studies reported G6PD A- (202GA) frequency estimates considerably lower than those generally found in sub-Saharan Africa [ 10 ] and confirmed by a recent geostatistical model-based map that predicted a 1.0% prevalence [ 15 ]. The prevalence G202A deficient variant was zero (0.0%) in this study, which is in line with the study findings in Ethiopia [ 28 , 36 ] and Northern Sudan [ 37 ]. In contrast, the frequency of G6PD A- deficient variant was higher in Uganda (20.41%) and in Mali (7.9%) respectively [ 38 , 39 ].…”

Section: Discussionsupporting

confidence: 92%

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

Tseghereda¹,

Ngángá²,

Kimang'a³

et al. 2018

Pan Afr Med J

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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.

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“…These frequencies are in accordance with those reported by this study. Lower frequencies were observed in other African populations namely in the 4th Nile cataract region in Sudan [15] or in the Republic of Guinea [16]. Higher frequencies were detected among Palestinians in the Gaza Strip [8] and in Tunisia [6].…”

Section: Discussionmentioning

confidence: 81%

Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola

Brito

Tchonhi²,

Santos³

et al. 2014

J Pharmacogenomics Pharmacoproteomics

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Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan

Cited by 6 publications

References 39 publications

Submicroscopic carriage of Plasmodium falciparum and Plasmodium vivax in a low endemic area in Ethiopia where no parasitaemia was detected by microscopy or rapid diagnostic test

Submicroscopic carriage of Plasmodium falciparum and Plasmodium vivax in a low endemic area in Ethiopia where no parasitaemia was detected by microscopy or rapid diagnostic test

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

Glucose-6-Phosphate Dehydrogenase Deficiency in Children from 0 to 14 Years Hospitalized at the Pediatric Hospital David Bernardino, Luanda, Angola

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