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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Hemodialysis is an extrarenal purification technique widely used to increase life expectancy during chronic kidney disease. The latter contrasts with an impairment of quality of life due to joint complications caused by amyloidosis, resulting from the increase in the blood of beta-2 microglobulin (β2m). The objectives of our study were to determine the variation of serum β2m in chronic hemodialysis patients monitored at the nephrology department hemodialysis unit of Aristide Le Dantec Hospital and to investigate possible correlations between serum β2m and epidemiological parameters on the one hand and those of hemodialysis on the other. Serum β2m was measured by a two-step sandwich immunoassay method with final fluorescence detection, using the VIDAS 3 (BIOMERIEUX) immunoassay automaton. The study population consisted of 35 patients, 57 % male and 43 % female, the mean age was 48.97 years. The average length of time on dialysis was 5.94 years. The initial nephropathy was nephroangiosclerosis in 40 % of cases. The vascular approach was by an arteriovenous fistula in 91.4 % and a temporary venous catheter in 8.6 %, only a synthetic membrane was used. Serum β2m values were high with an average of 43.88 mg / l. Elevations in β2m were correlated with sex (p = 0.007), age (p = 0.007), length of time on dialysis (p = 0.0001) and residual diuresis (p = 0.035). Therefore, it is important to include β2m in the kidney disease monitoring report.

Vitamin D deficiency (VDD) is a public health problem which affects all human beings including darkskinned subjects. In children, it can cause disabilities associated with skeletal abnormalities such as rickets or stunted growth. VDD is also associated with a significant risk of extra-skeletal, infectious, auto-immune, neoplastic, and cardiovascular diseases. The concentration of 25 (OH) D is currently considered as the best VDD indicator. Whereas VDD has been well studied in Western countries and North America, very few studies have been conducted in sub-Saharan Africa. The aim of this study was to assess the prevalence and risk factors of VDD in children aged between 0 to 59 months. This is a cross-sectional prospective study conducted from August 5, 2019, to November 30, 2020. A total of three hundred children were included in this study, two hundred of whom were malnourished and the rest with a normal P/T ratio. The variables studied were vitamin D, serum calcium, magnesium, phosphorus and iron. Ferritin, haemoglobin, protein, albumin and prealbumin were also studied. The prevalence of VDD in the general population was 30%. No significant statistical difference in vitamin D concentration values was noticed between malnourished and nourished children with p = 0.388. Children over 24 months of age are 2.34 times more likely to be VDD than others. Given the prevalence of VDD in the study population, it would be necessary to integrate screening and supplementation into current medical practice.