Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency (A-376/202) in homozygous sickle cell patients in Senegal and its clinical impact

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 ˂ 0.006). Variant A-was statistically significantly associated with cholelithiasis (p˂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.