IMR Press / FBS / Volume 15 / Issue 3 / DOI: 10.31083/j.fbs1503011
Open Access Original Research
Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania
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1 Laboratory of Natural Substances, Pharmacology, Environment, Modeling, Health, and Quality of Life (SNAMOPEQ), Department of Biology, Faculty of Sciences Dhar El Mahraz, University Sidi Mohamed Ben Abdallah, 30000 Fez, Morocco
2 Medical Analysis Laboratory (Maurilab), 2434 Nouakchott, Mauritania
3 The Higher Institute of Nursing Professions and Health Techniques, 30000 Fez, Morocco
4 Faculty of Sciences and Techniques, Department of Biology, Nouakchott University, 2373 Nouakchott, Mauritania
5 Faculty of Medecine, Department of Basic Sciences, Nouakchott University, 2373 Nouakchott, Mauritania
6 Center of Urban Systems (CUS), Mohamed VI Polytechnic University (UM6P), Lot 660, Hay Moulay Rachid, Ben Guerir 43150, Morocco
*Correspondence: (Badiaa Lyoussi)
These authors contributed equally.
Front. Biosci. (Schol Ed) 2023, 15(3), 11;
Submitted: 6 June 2023 | Revised: 18 July 2023 | Accepted: 17 August 2023 | Published: 25 September 2023
Copyright: © 2023 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

Background: Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is the most frequent enzymopathy worldwide; it is a genetic disorder that affects red blood cells and causes hemolysis. Here, we conducted a study on G6PD-deficient subjects in Mauritania to evaluate the molecular characteristics associated with a deficiency in this enzyme and the frequency of nucleotide polymorphisms in the glucose-6-phosphate dehydrogenase gene. Method and Materials: A total of 943 blood samples were collected from blood donors (803 males and 140 females; 364 white Moors; 439 black Moors; 112 Pulaar; 18 Wolof; 10 Soninke). All blood samples were analyzed using a rapid screening test. G6PD status was analyzed quantitatively by the Randox G6PD test. Samples deficient in G6PD were extracted from the whole blood samples and subjected to DNA genotyping. The most frequent G6PD variants were determined by two molecular techniques: restriction fragment length polymorphism (RFLP) and multiplex PCR using the GENESPARK G6PD African kit. A total of six single nucleotide polymorphisms (SNPs) (G202A, A376G, A542T, G680T, C563T, and T968C) were identified. Results: The prevalence of G6PD deficiency in this population sample was 8.1%. The most common mutation was A376G/202A and was characterized by the G6PD A-phenotype, which is more common in the G6PD-deficient black Moors population. The wilaya in Nouakchott was the most affected among the 13 wilayas studied. Conclusions: This study shows, for the first time, the presence of the G680T mutation.

multiplex PCR
Fig. 1.
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