Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.

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.

Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α3.7 triplication in congolese patients than in worldwide series.

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.

Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa.

BACKGROUND: The influence of phenotype on the clinical course and laboratory features of sickle cell anemia (SCA) is rarely described in sub-Saharan Africa. METHODS: A cross-sectional study was conducted in Kinshasa. A clinical phenotype score was built up. The following definitions were applied: asymptomatic clinical phenotype (ACP; score≤5), moderate clinical phenotype (MCP; score between 6 and 15), and severe clinical phenotype (SCP; score≥16). ANOVA test were used to compare differences among categorical variables. RESULTS: We have studied 140 patients. The mean body mass index (BMI) value of three groups was lower (<25 kg/m2 ) than the limit defining overweight. BMI of the subjects with ACP was significantly higher than those of other phenotypes (P<.05). Sickle cell patients with ACP have a high mean steady-state hemoglobin concentration compared to those with MCP and SCP (P<.001). A significant elevated baseline leukocyte count is associated with SCP (P<.001). Fetal Hemoglobin (HbF) was significantly higher in ACP. Significant elevation of alpha 1 and alpha 2 globulins in SCP were observed. CONCLUSION: 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.

Prevalence and determinants of osteoporosis in Congolese patients with axial rheumatism: a cross-sectional hospital-based study.

Introduction: osteoporosis seems to be uncommon in sub-Saharan Africa. The aim of this study was to determine prevalence and determinants of osteoporosis in Congolese outpatients attending rheumatology consultation for axial rheumatism in Kinshasa, Democratic Republic of the Congo. Methods: a cross-sectional hospital-based study from January to December 2018 among outpatients received for axial rheumatism in 8 hospitals of Kinshasa. The parameters of interest were age, sex, body mass index (BMI), alcoholism, smoking, physical activity, sunlight exposure, intake of dairy products, the notion of personal or parental fracture, a bone mineral density (BMD) and a phosphocalcic metabolism. The BMD was measured by using the dual energy X-ray absorptiométry. Serum level of calcium, Vitamin D, phosphore and parathormon were determined to assess the phosphocalcic metabolism. Osteoporosis was defined by a T-Score ≤ -2.5 SD. Standard statistical tests were used to analyze the results. Results: ninety patients (75 women and 15 men) were included. Their mean age was 63.5 ± 12.2 years. Low back pain 71.1% (n=63) was the main symptom. The rate of patients with osteoporosis, osteopenia, and normal bone density was 34.4% (n=31), 43.9% (n=44), and 16.7% (n=15) respectively. Pathological bone fractures were not noted. Ageing (aOR: 1.31, IC95%: 1.11-1.54; p=0.002), smoking (aOR: 14.65, IC95%: 1.38-156.1; p=0.045) and non-obese status (aOR: 32.3, IC95% 1.50-696; p=0.032) were identified as determinants of osteoporosis. Conclusion: in the present study, osteoporosis is common in Congolese patients with axial pain and is more frequent in women. Its determinants are ageing, smoking and non-obese status.

Clinical and radiological features of knee osteoarthritis in patients attending the university hospital of Kinshasa, Democratic Republic of Congo.

INTRODUCTION: The aim of the present study was to describe the clinical and radiological features of knee osteoarthritis in Congolese outpatients attending the University Hospital of Kinshasa (UHK). METHODS: A cross-sectional study was performed in the rheumatology unit of the UHK from January to August 2012. Patients were consecutively recruited. The diagnosis of Osteoarthritis (OA) was based on the criteria of the American College for Rheumatology. Demographic, clinical and x-rays data were collected. The X-rays severity was assessed according to Kellgren and Lawrence's method. RESULTS: 1049 patients attended the Rheumatology unit of the UHK during the study period. An accurate diagnosis was reported for 839 patients, of whom 376 (44.8%) suffered from OA. Knee OA was diagnosed in 118 patients (31.4% of all OA patients). 101 patients accepted to be included in the study, 78 women (77.2%) and 23 men (22.8%). Their average age was 58.9 ± 10 years. A body mass index (BMI) ≥ 25kg/m2 was observed in 68 patients of whom 28 were obese (BMI ≥ 30kg/m2). The main symptoms were a mechanical pain (100%), swelling (40.6%), crepitus (79.2%) and mobility reduction (X%). Knee deformities were observed in some patients. At baseline, radiological damages > stage 2 of Kellgren-Lawrence were found in 70 patients. CONCLUSION: Knee OA is a common disease among outpatients who attend the unit of Rheumatology of the UHK. Its clinical profile is the same as what is reported in the literature. Obesity and skeletal abnormalities are encountered in the majority of patients.

Prevalence and associated factors of subclinical atherosclerosis in rheumatoid arthritis at the university hospital of Kinshasa.

BACKGROUND: Rheumatoid arthritis (RA) is associated with a 5 to 10 years reduction in life expectancy due to premature atherosclerosis. This reduction is the consequence of traditional cardiovascular risk factors (TCRF) as well as systemic inflammation. The aim of the present study was to describe the prevalence and factors associated with subclinical atherosclerosis in RA at the University Hospital of Kinshasa (UHK). METHODS: Patients with a diagnosis of RA based on the 2010 ACR/EULAR criteria were included in this cross-sectional study from 1 June 2014 to 31 May 2015 at the UHK. RA disease activity was measured using the DAS28-ESR. Active RA was defined by a DAS 28 > 2.6. Severe RA was defined by the presence of extra-articular manifestation, joint erosions on X-rays or HAQ ≥0.5. An assessment of subclinical atherosclerosis was performed by the measurement of the carotid intima-media thickness (cIMT) using two-dimensional ultrasonography. Subclinical atherosclerosis was defined by a cIMT ≥0.9 mm. A diagnosis of atheroma plaque was retained when the cIMT was ≥1.5 mm. The association between subclinical atherosclerosis and potential risk factors was modeled using logistic regression analysis. RESULTS: We recruited 75 patients. The average age was 51.8 ± 14.6 years, with a sex ratio F/M of 4. The prevalence of subclinical atherosclerosis was 32%. In logistic regression being a woman of ≥55 years old (aOR 10.6, 95% CI [2.087-53.82], p = 0.028), DAS28-ESR > 2.6 (aOR 3.5,95% CI [1.55-10.38], p = 0.044), severe RA (aOR 32.6,95% CI [1.761-60.37],p = 0.035), high blood pressure (aOR 22.4,95% CI [5.04-99.41], p = 0.005) and obesity (aOR 32.3, 95% CI [2.606-40.73], p = 0.026) emerged as factors associated with subclinical atherosclerosis. CONCLUSION: Subclinical atherosclerosis is common in RA patients attending the UHK. It appears to be associated with RA disease activity and severity apart from traditional cardiovascular risk factors. These results suggest that early management of subclinical atherosclerosis targeting remaining RA disease activity and cardiovascular risk factors could slow down progression to clinical cardiovascular disease.

Spondyloarthritis in the Democratic Republic of the Congo: a prospective hospital-based study.

OBJECTIVES: To determine the spectrum of spondyloarthritis (SpA) in outpatients with symptoms of rheumatism attending two rheumatology practices in the Democratic Republic of the Congo. DESIGN: A descriptive prospective multicentre outpatient study. SETTING: The present study analysed 6 months data (from 1 December 2012 till 31 May 2013). PARTICIPANTS: Nine hundred and eighty-four consecutive outpatients were studied. PRIMARY AND SECONDARY OUTCOME MEASURES: A clinical diagnosis of SpA was made and several classification criteria were applied afterwards. Radiographic lesions in the sacroiliac joint were scored with the modified New York criteria. BASDAI and BASFI were evaluated in axial SpA (axSpA). The primary end point was the prevalence of SpA and the secondary end points were the spectrum of SpA and its subtypes. RESULTS: One hundred and five patients (10.7%) were diagnosed among 984 consecutive outpatients with a sex ratio (male to female) of 1.4. The average age at disease onset was 41.3±12.4 years. Non-radiographical axSpA was the most frequent subtype (5.0%) followed by reactive arthritis (4.3%). Other subtypes were: ankylosing spondylitis (1.0%), psoriatic arthritis (0.1%), synovitis, acne, pustulosis, hyperostosis, osteitis syndrome (0.1%) and inflammatory bowel disease-associated arthritis (0.1%). Mean BASDAI and BASFI in axSpA were 42.7/100 and 46.4/100, respectively. Peripheral enthesitis was found in 43% of patients with SpA and uveitis (10.4%) was the most frequent extra-articular manifestation. We did not detect any family history. Median erythrocyte sedimentation rate and C reactive protein were 37 (range: 7-110) mm/hour and 22 (range: 4-48) mg/L, respectively. CONCLUSIONS: This hospital-based study suggests there is substantial occurrence of some subtypes of SpA in central Africa. A population-based study is needed to evaluate these subtypes.

Factors Associated with Growth Retardation in Children Suffering from Sickle Cell Anemia: First Report from Central Africa.

Background. The aim of this study was to investigate and determine the risk factors associated with poor growth among SCA children. Methods. A cross-sectional study was conducted in Kinshasa, the capital's country. The nutritional status was assessed using the Z scores of the anthropometric indices. Results. We gathered data on the 256 patients, 138 females (53.9%), who entered the study. The mean age at presentation was 8.4 ± 4.9 years of age. Underweight, stunting, and wasting were found, respectively, in 47.7%, 10.5%, and 50.3% of SCA children. A history of hand-foot syndrome, more than 3 blood transfusions, being less than 12 months of age when receiving the first transfusion, more than two severe sickle crises per year, a medical history of severe infections, and the presence of hepatomegaly were associated with poor growth. When comparing sickle cell patients under 12 years of age (n = 159) to a group of 296 age-matched children with normal Hb-AA, a significantly higher proportion of subjects with stunting and underweight were found among SCA. Conclusion. Nutritional status encountered in Congolese sickle cell children has been described for the first time in this study. A high prevalence of poor growth in SCA children was found in our study.