Sickle cell disease has a great variability of clinical and biological expression that depends on modulatory and environmental genetic factors. This variability in clinical and biological expression encourages us to look for predictors of severity. Hemoglobin F and its genetic determinants are influencing prognostic factors. The objectives of this study were to: determine the prevalence of the Senegal haplotype in homozygous sickle cell patients, study the relationship between this haplotype and the hemoglobin F level and evaluate its influence on the complications of the disease. This is a cross-sectional prospective study that included 100 homozygous sickle cell patients aged over 15 years. A questionnaire was used to collect epidemiological, clinical and biological variables. The hemoglobin F level was measured by capillary method and the analysis of point mutations by restriction fragment length polymorphism (RFLP). These data were collected and analyzed with the software Epi-info 7.2. A value p ≤ 0.05 was considered significant. The Senegal haplotype was found in 90% of patients, of whom 58% were homozygous for this mutation and 32% were heterozygous. The hemoglobin F level averaged 9.5% ± 8.3% and correlated statistically significantly with the allelic frequency. However, only bilary lithiasis correlated with the Senegal haplotype (p <0.005). This study confirms the homogeneity of the Senegal haplotype in the Senegalese sickle cell population and its influence on the synthesis of hemoglobin F. On the other hand, it revealed the existence of a relationship between the Senegal haplotype and bilary lithiasis suggesting the role of this haplotype in the protection against polymerization and hemolysis globally.

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 Awas 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.

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