Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients.

BACKGROUND: Sickle cell disease (SCD) is a major heritable genetic disease in sub-Saharan Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology, moderate the clinical course, and offer prospects for curative treatment of SCD. This study aimed to investigate the influence of single nucleotide polymorphisms (SNPs) in the BCL11A gene on the levels of HbF and hematological parameters in Mauritanian sickle cell (HbSS) patients. METHODS: Complete blood count was assessed in 565 patients suspected to have SCD. Polymerase chain reaction (PCR)-restriction fragment length polymorphism was performed to identify the HbSS, and sequencing was used for genotyping three SNPs: rs4671393 (A>G) and rs11886868 (C>T) in the intron 2 and rs1052520 (G>A) in the 3'UTR regions of the BCL11A gene in 50 sickle cell patients. RESULTS: The prevalence of HbSS among the study population was 8.8% (50/565), and the mean (± standard deviation) of HbF level was 15.0% (± 6.0%). Sequencing showed the presence of three genotypes: AA (13.6%), AG (46.6%), GG (39.6%) in rs4671393; CC (17.6%), CT (48.7%), and TT (33.6%) in rs11886868. All samples from HbSS individuals displayed a wild-type genotype in the rs1052520 allele. The prevalence of minor alleles A (rs4671393) and C (rs11886868) were 37% and 39%, respectively. There was a statistically significant association (p = 0.034) between rs4671393 SNP and elevated HbF (mean 12.72 ± 6.26%). CONCLUSIONS: The study of three SNPs in the BCL11A locus in Mauritanian patients with SCD showed a significant association of rs4671393 allele with the HbF level. Further research is needed to explore additional SNPs in the BCL11A locus and investigate other genetic markers reported to modulate HbF levels, such as HBS1L-MYB and Xmn1-HBG2, to improve the management of this potentially life-threatening condition in Mauritania.

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania.

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.

[Severe hemorrhagic forms of Rift Valley fever: about 5 cases]. / Formes hémorragiques graves de la fièvre de la vallée du Rift: à propos de 5 cas.

Rift Valley fever (RVF) is an arbovirus caused by an RNA virus belonging to family Bunyaviridae (genus phlebovirus). It is a zoonosis that primarily affects animals but it also has the capacity to infect humans, either by handling meat, runts of sick animals or, indirectly, by the bite of infected mosquitoes (Aedes sp, Anopheles sp, Culex sp). In most cases, RVF infection in humans is asymptomatic, but it can also manifest as moderate febrile syndrome with a favorable outcome. However, some patients may develop hemorrhagic syndrome and/or neurological damages with a fatal evolution. We present a case study of the development of 5 patients with RVF associated with hemorrhagic fever syndrome admitted to the internal medicine department at National Hospital Center in Nouakchott (Mauritania), in October 2015. The outcome was favorable for two of the five patients. The other 3 died, two of hemorrhagic shock and one of septic shock.

[Antibiotic susceptibility of community-acquired strains ofstaphylococcus aureus in Nouakchott Region (Mauritania)]. / Sensibilité aux antibiotiques des souches destaphylococcus aureus communautaires dans la région de Nouakchott (Mauritanie).

INTRODUCTION: Staphilococcus aureus is a leading pathogen for humans causing a variety of infections such as skin, urinary tract and lung infections as well as sepsis. This study aims to evaluate the susceptibility of community-acquired strains of Staphylococcus aureus, isolated from various pathological products, compared with major antibiotics used in Nouakchott Region (Mauritania). METHODS: We conducted a retrospective study of 281 strains of Staphylococcus aureus strains isolated from various pathological products from non-hospitalized patients in the National referral hospital laboratory and in two private laboratories in the city of Nouakchott between January 2014 and August 2015. Antibiotic sensitivity was determined by disk diffusion method using agar containing Mueller-Hinton medium according to CA-SFM's recommendations. RESULTS: The resistance rate to penicillin G was high (96-100%). Community-acquired MRSA rate was between 25 and 26% in suppurations, 34.3% in urine cultures and 28% in sperm cultures. Macrolide -Lincosamyne-streptogramins (MLS) resistance, giving rise to the phenotype MLSb inducible, was found in 6% of urinary strains and 27% of strains isolated from suppurations. The activity of aminoglycosides was variable, amikacin was active against all strains. Cotrimoxazole activity was low (77% had resistance) and no vancomycin resistance was reported. CONCLUSION: The activity of penicillin G against Staphylococcus aureusstrains isolated in Nouakchott region is almost zero and community-acquired MRSA rate is high, accounting for 34%. This could be explained by uncontrolled use of these molecules in our country.