Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common worldwide enzymopathy with approximately 400 million individuals affected. This inherited disease is sex-linked recessive inheritance. The high prevalence of certain variants of G6PD in different populations and ethnic groups increases the likelihood of finding associations with other pathologies. Sickle cell disease and thalassemia are the most common pathologies associated with G6PD deficiency. The aim of this study was firstly to study the prevalence of glucose-6-phosphate dehydrogenase deficiency (A-376/202) by molecular analysis in homozygous sickle cell patients, and secondly to study the influence of this association on the clinical severity of the disease. In a cross-sectional study, 100 patients aged 15 years with homozygous sickle cell disease in the stationary phase regularly monitored in a National Center for Blood Transfusion were included over a six-month period stretching from September 2015 to February 2016. An EDTA sampling tube was taken from each patient for the study of hematological parameters and a molecular study for the detection of mutations 376 and 202. Clinical, epidemiological and biological variables were collected using a questionnaire. Data was analyzed using Epi-info 7.2. The results of the study showed that the variant A- characterized by a double mutation (376/202) was found with a frequency of 13% (13/100) with a clear male predominance (p E‚ 0.006). Variant A- was statistically significantly associated with cholelithiasis (pE‚0.031). This study is of therapeutic interest since the recognition of G6PD-deficient sickle cell disease would make it possible to take adequate preventive measures with respect to the taking of oxidizing drugs. Key words: Glucose-6-phosphate dehydrogenase (G6PD) deficiency, sickle cell disease, stationary phase, Senegal.
Highlights
Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway, catalyzing the oxidation of glucose-6-phosphate to 6-phosphogluconate with concomitant reduction of nicotinamide adenine dinucleotide phosphate (NADP) to nicotinamide adenine dinucleotide reduced phosphateAfr
Examination of variants of G6PD shows that, in most cases, the deficiency is related to the instability of the enzyme, which implies that amino acid substitutions in different locations can destabilize the enzyme molecule (Cappellini and Fiorelli, 2008)
The main objective of this study is to determine the prevalence of G6PD type A- deficiency in homozygous sickle cell patients and to check the influence of this deficiency on the clinical severity of the disease
Summary
The most common of those who have normal activity is type A, which is found with great frequency in subjects from Africa This variant is due to a substitution of guanine by adenine at position 376 causing a change in the amino acid asparalgine (Asn) by aspartic acid (Asp) in position 126 on the peptide chain. A second mutation found on this same allele due to the substitution of adenine by guanine at position 202 corresponds to the variant A- of G6PD. This represents 30% of the African black population (Cotton, 2003). The instability of the protein, which is created in the A- type deficiency, reduces the half-life of the protein from 62 to 13 days and its activity is only 0.8% of that of a young red cells
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