BackgroundSickle cell anemia is an inflammatory disease and is characterized by chronic hemolysis. We sought to evaluate the association of lactate dehydrogenase levels with specific clinical phenotypes and laboratory variables in patients with sickle cell anemia.MethodsThe present cross-sectional study was conducted in Sickle Cell Centre of Yolo in Kinshasa, the Democratic Republic of Congo. Two hundred and eleven patients with Sickle Cell Anemia in steady state were recruited. Seventy-four participants with normal Hb (Hb-AA) were selected as a control group.ResultsThe average rates of hemoglobin, hematocrit, and red blood cells tended to be significantly lower in subjects with Hb-SS (p<0.001). The average rates of white blood cells, platelets, reticulocytes and serum LDH were significantly higher in subjects with Hb-SS (p<0.001). The average rates of Hb, HbF, hematocrit and red blood cells of Hb-SS patients with asymptomatic clinical phenotype were significantly higher than those of the two other phenotypes. However, the average rates of white blood cells, platelets, reticulocytes, and LDH of Hb-SS patients with the severe clinical phenotype are higher than those of two other clinical phenotypes. Significant correlations were observed between Hb and white blood cell in severe clinical phenotype (r3 = -0.37 *) between Hb and red blood cells in the three phenotypes (r1 = 0.69 * r2 * = 0.69, r3 = 0.83 *), and finally between Hb and reticulocytes in the asymptomatic clinical phenotype and severe clinical phenotype (r1 = -0.50 * r3 = 0.45 *). A significant increase in LDH was observed in patients with leg ulcer, cholelithiasis and aseptic necrosis of the femoral head.ConclusionThe increase in serum LDH is accompanied by changes in hematological parameters. In our midst, serum LDH may be considered as an indicator of the severity of the disease.

In our study, fetal hemoglobin has an influence on the clinical severity and the biological parameters of SCA. The study provides data concerning the sickle cell anemia clinical and biological variability in our midst.

FHb and alpha-thal are two genetic factors that modulate the clinical expression of sickle cell disease. Objective: to determine the beneficial role of FHb and alpha-thal on fetal and maternal morbidity during pregnancy in sickle cell patients. This is a documentary and analytical study that included 960 deliveries of homozygous sickle cell patients. The deliveries were divided into three genotype subgroups: Hb-SS / alpha-thal, HbSS / HPFH and HbSS. The diagnosis of SCD and the quantification of FHb were performed by the capillary electrophoresis technique. The diagnosis of SCD has been confirmed by the molecular test. The diagnosis of alpha-thal was made by the multiplex ligation dependent probe amplification (MLPA) technique. Sickle cell pregnancies were followed according to the protocol of care in force in our service. The variables of interest were: hematological variables, sickle cell crises during pregnancy, maternal and fetal complications. Statistical analyzes were performed with SPSS 20.0 software. Means and standard deviations were compared with the Student's t and Annova tests. The value of p <0.05 was considered the significance level. The Hb-SS / alpha-thal and HbSS / HPFH genotypes were observed in 101 and 121 women respectively. Otherwise 758 women had the HbSS genotype. The morbidity related to sickle cell complications in the mother and fetus, were less frequent in the Hb-SS / alpha-thal and HbSS / HPFH groups. The statistical differences were statistically significant. This study showed a significant protective effect of alpa-thal and HPFH during pregnancy in sickle-cell pregnant women. FHb and alpha-thal are two genetic factors that modulate the clinical expression of sickle cell disease. Objective: to determine the beneficial role of FHb and alpha-thal on fetal and maternal morbidity during pregnancy in sickle cell patients. This is a documentary and analytical study that included 960 deliveries of homozygous sickle cell patients. The deliveries were divided into three genotype subgroups: Hb-SS / alpha-thal, HbSS / HPFH and HbSS. The diagnosis of SCD and the quantification of FHb were performed by the capillary electrophoresis technique. The diagnosis of SCD has been confirmed by the molecular test. The diagnosis of alpha-thal was made by the multiplex ligation dependent probe amplification (MLPA) technique. Sickle cell pregnancies were followed according to the protocol of care in force in our service. The variables of interest were: hematological variables, sickle cell crises during pregnancy, maternal and fetal complications. Statistical analyzes were performed with SPSS 20.0 software. Means and standard deviations were compared with the Student's t and Annova tests. The value of p <0.05 was considered the significance level. The Hb-SS / alpha-thal and HbSS / HPFH genotypes were observed in 101 and 121 women respectively. Otherwise 758 women had the HbSS genotype. The morbidity related to sickle cell complications in the mother and fetus, were less frequent in the Hb-SS / alpha-thal and HbSS / HPFH groups. The statistical differences were statistically significant. This study showed a significant protective effect of alpa-thal and HPFH during pregnancy in sickle-cell pregnant women.

Background Information about the association with alpha thalassemia in sickle cell patients is unknown in the Democratic Republic of Congo. There is very little data on the alpha thalassemia in patients suffering from sickle cell anemia in Central Africa, and their consequences on the clinical expression of the disease. Methods A cross‐sectional study was conducted in 106 sickle cell patients living in the country's capital Kinshasa. The diagnosis of sickle cell anemia was confirmed with a molecular test using PCR‐RFLP (restriction fragment length polymorphism) technique. The diagnosis of thalassemia was performed by the technique of multiplex ligation dependent probe amplification. Results The mean age of our patients was 22.4±13.6 years. The α3.7 heterozygous deletion, the α3.7 homozygous deletion and the α3.7 triplication were respectively encountered in 23.6%, 25.5% , and 11.3% of patients. Patients with normal αα/αα genotype represented 39.6% of the study population. The average of severe vaso‐occlusive crises, the rates of blood transfusions per year, the rate of osteonecrosis, cholelithiasis and leg ulcers were significantly lower in the group of patients with α3.7 homozygous deletion and α3.7 triplication. Conclusion The prevalence of α3.7 triplication was higher in sickle cell patients in the Democratic Republic of Congo than in worldwide series. The α3.7 triplication and α3.7 homozygous deletion were associated with less severe forms of the Sickle cell anemia in Congolese patients. These results showed the need to investigate systematically the alpha‐globin gene mutations in sickle cell population in Central Africa.

Background Sickle cell anemia (SCA) is a monogenic hemoglobinopathy associated with severe acute and chronic complications, with the highest incidence worldwide in Sub-Saharan Africa. The wide variability in clinical manifestations suggest that a uniform response to hydroxurea may not be attained. In view of a potential treatment with hydroxyurea (HU), we assessed the variability of clinical and hematological manifestations in a cohort of adults with SCA in Kinshasa, capital of the DR Congo in Central Africa. Methods A cross-sectional study was conducted in a hospital dedicated to SCA management in Kinshasa. Clinical history of patients was recorded, a complete physical examination performed. The diagnosis was confirmed by means of DNA analysis. A full blood count and hemolysis markers were measured. The severity of the disease was evaluated by means of a previously reported score. Results The study group consisted of 166 genetically confirmed SCA patients. The SCA severity was mild in 28.9%, moderate in 64.5% and severe in 6.6%. The disease severity score increased with patient’s age (p ≤ 0.001). The severity was higher in males compared to females (p = 0.012). In males, the severity score was correlated with the presence of priapism (p = 0.045), a manifestation not previously incorporated in the severity score. The severity score was inversely correlated with the fetal hemoglobin (HbF) rate (p = 0.005). Malnutrition (BMI <18.5 kg/m2) was present in 47% of patients and was related to the male sex, hip disease (aOR 3.11; p = 0.019) and severe phenotype (aOR 3.53; p = 0.012). Leg ulcers were more frequent in males than in females (p = 0.001; OR 24.3) and were correlated with the number of days of hospitalization (p = 0.029). Hip disease was related to the increasing age (p = 0.008). Conclusion In this selected, hospital-based populations of adults with SCA, severe disease was rare, which may be due to survival bias. However, two thirds had moderate severity of the disease, mostly with a low HbF, and they may benefit from HU treatment. In the Central-African setting the separation between vaso-occlusive and hyperhemolytic sub-phenotypes was not applicable.

Background We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients. Methods A preliminary cross‐sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies. Results In the group 1, at rs7606173, the observed frequency for the genotype GG was significantly higher and the genotype GC was significantly lower than their respective expected frequencies. At rs9399137, the observed frequency of the genotype TT was significantly lower than expected. Conversely, the observed frequency of the genotype TC was significantly higher than expected. The observed frequency of the genotype TT at rs11886868 was significantly lower than the expected whereas the frequency of the genotype TC was significantly higher than observed. The lowest HbF level was recorded in patients with genotype CC at rs11886868. Conclusion In this preliminary study, the results demonstrate that alleles of some of the 8 studied SNPs are not randomly distributed among patients with or without HPFH in this cohort.

Introduction Malaria is associated with high morbidity during pregnancy. Homozygous sickle cell pregnant women are even more exposed during complicated malaria. The objective of the study was to evaluate the maternal and fetal morbidity of homozygous sickle cell pregnant pregnant women with complicated malaria. Methods We conducted a retrospective case-control study of 982 pregnancies in sickle cell pregnant women, during which a group of sickle cell pregnant women who received antimalarial chemoprophylaxis was compared to another group without chemoprophylaxis. We analyzed the clinical evolution of pregnant women (VOCs and transfusions, pregnancy weight gain) and parasite (parasite density at the time of diagnosis of complicated malaria and during treatment for three days). We analyzed the parameters of newborns at birth (age of pregnancy at the time of delivery, birth weight, weight of the placenta and histopathological examination of the placenta. Results Out of 982 pregnancies, 15% of pregnant women suffered from complicated malaria, 57% suffered from uncomplicated malaria and 28% did not suffer from malaria. Pregnancy weight gain, birth weight, was better in the group of pregnant women who received chemoprophylaxis and the placenta had less histological lesions. Parasite density was low. There was a significant positive correlation between parasite density and the number of CVOs and transfusions and between parasite density and histological lesions of the placenta and low birth weight. Conclusion Complicated malaria is associated with high maternal and fetal morbidity in sickle cell patients. Malaria chemoprophylaxis can reduce maternal and fetal complications and parasite density during malaria infection.

Sickle cell anemia is highly prevalent in Central Africa. The disease causes severe manifestations in children requiring treatment. Hydroxyurea is currently the most effective drug treatment. Therefore, we evaluated the use of HU in children living in rural Central Africa. We conducted a clinical trial with HU from November 2017 to February 2020 in the Hôpital Saint Luc de Kisantu in the DR Congo. Patients aged 6 months to 18 years with a moderate or severe form of SCA (Adegoke score) were treated with an initial HU dose of 15mg/kg per day, which was increased gradually in increments of 5mg/kg per day every six months, to a maximally dose of 30mg/Kg/day. To determine the clinical and biological response to the treatment, we compared the clinical and biological data from the first and second year of treatment with the baseline. From the 136 SCA children followed at KSLH, 69 (37 boys and 32 girls; sex-ratio M/F 1.15) started the clinical trial with HU. Of them, 39 patients reached the end of the clinical trial (56.5%). We observed a mean increase in the HbF rate of 3-fold at 12 months and 3.3-fold at 24 months, with a significant difference from the baseline. Thirty-seven (80.4%) patients presented a good clinical response, and 9 (19.6%) did not respond. In conclusion, our clinical trial showed the effectiveness of HU treatment clinically and biologically. Despite tremendous logistical difficulties, HU treatment in a rural area offers the prospect of improving the quality of children with SCA’ life.