Newborn screening for sickle cell disease in Kisangani, Democratic Republic of the Congo: an update.

BACKGROUND: Neonatal screening is the first action necessary to identify children with sickle cell disease (SCD) and thus ensure their care. Using rapid tests to give an immediate result to families is a new resilient approach of great interest. These two aspects are essential for establishing an adequate health policy for this disease. This study was undertaken in Kisangani to update the current incidence of neonatal SCD. METHODS: Heel prick blood samples of 1432 babies born from different racial groups of parents living in Kisangani were collected at birth and screened using a point of care test, i.e. the HemoTypeSCTM. RESULTS: The incidence at birth was 2.2% (n = 31; 95% CI: [1.5%-3.1%]) for HbSS homozygosity and 21% (n = 303; 95% CI: [19%-23%]) for HbAS heterozygosity. Compared to a previous study in 2010; the incidence at the birth of the HbSS form has doubled, while that of the heterozygous form HbAS remained almost unchanged. The inter-ethnic incidence of HbSS among the five top-represented ethnic groups was significant (<0.001). CONCLUSION: The prevalence of homozygote form has doubled compared to the 0.96% reported in 2010. Setting up a neonatal screening program and an awareness unit is necessary to assess the need for care services correctly.

Clinical profile of children under 5 years of age with rotavirus diarrhoea in a hospital setting in Kisangani, DRC, after the introduction of the rotavirus vaccine, a cross-sectional study.

BACKGROUND: The Democratic Republic of the Congo (DRC) is one of the countries with the highest rotavirus mortality rate in the world. The aim of this study was to describe the clinical features of rotavirus infection after the introduction of rotavirus vaccination of children in the city of Kisangani, DRC. METHODS: We conducted a cross-sectional study of acute diarrhoea in children under 5 years of age admitted to 4 hospitals in Kisangani, DRC. Rotavirus was detected in children's stools by an immuno-chromatographic antigenic rapid diagnostic test. RESULTS: A total of 165 children under 5 years of age were included in the study. We obtained 59 cases of rotavirus infection, or 36% CI95 [27, 45]. The majority of children with rotavirus infection were unvaccinated (36 cases) and had watery diarrhoea (47 cases), of high frequency per day/per admission 9.6 ± 3.4 and accompanied by severe dehydration (30 cases). A statistically significant difference in mean Vesikari score was observed between unvaccinated and vaccinated children (12.7 vs 10.7 p-value 0.024). CONCLUSION: Rotavirus infection in hospitalized children under 5 years of age is characterized by a severe clinical manifestation. Epidemiological surveillance is needed to identify risk factors associated with the infection.

Red blood cell alloimmunisation in sickle cell disease patients in the Democratic Republic of the Congo.

OBJECTIVES: To determine the prevalence of red blood cell (RBC) alloimmunisation and alloantibody specificity in sickle cell disease (SCD) patients in Kisangani, Democratic Republic of Congo (DRC) in comparison with those followed at the Centre Hospitalier Régional (CHR) de la Citadelle of Liège (Belgium). BACKGROUND: Data regarding RBC alloimmunisation (immune response of the organism to foreign erythrocyte antigens, antigens that lack on its own RBC) in SCD patients are scarce in sub-Saharan Africa. METHODS: We conducted a multi-site-based cross-sectional study among 125 SCD patients at Kisangani and 136 at the CHR de la Citadelle of Liège. The diagnosis of SCD was confirmed by high-performance liquid chromatography. Alloantibodies were screened using the agglutination technique on gel cards and their specificity determined using 11 and/or 16 cell panels. Statistical analyses were carried out using SPSS. RESULTS: The prevalence of RBC alloimmunisation was 9.6% among SCD patients in Kisangani versus 22.8% in those of Liège. At Kisangani as well as at Liège, the median age of alloimmunised patients was higher than that of non-alloimmunised patients, 15.5 years (IQR:4.8-19.8) and 24 years (IQR:14-31) versus 10 years (IQR: 6.5-17) and 17 years (IQR:12-24), respectively. The median number of blood units was higher in both Kisangani and Liège immunised patients compared to non-immunised patients, 8 (IQR:5-11) versus 5 (IQR:3-13) and 41(IQR:6-93) versus 6.5(3-37) respectively. At Kisangani (N = 14), the most frequent antibodies were anti-D (28.6%) and anti-C versus anti-E (13.6%), anti-S (13.6%) and anti-Lea (11.4%) at Liège (N = 44). CONCLUSIONS: These findings stated that alloimmunisation is a common complication in SCD patients in the DRC. In the resource-limited setting of this country, blood transfusion with minimal ABO, D, C and E antigen matching in addition to the use of compatibility test could significantly reduce the incidence of this complication.

Pairing parents and offspring's HemoTypeSC Test to validate results and confirm sickle cell pedigree: a case study in Kisangani, the Democratic Republic of the Congo.

OBJECTIVES: HemoTypeSCTM is one of the immunoassay methods currently used for the early diagnosis of Sickle Cell Disease (SCD) in newborns. Earlier diagnosis remains the key strategy for early preventive care needs and parents' education about the child's future well-being throughout his life. Before considering these children as sick and aligning them for regular medical monitoring, it may be valuable to confirm the HemoTypeSC result with a secondary laboratory testing method. In resource-limited settings, where confirmatory methods are not always available, we propose testing the parents to validate the HemoTypeSC result. METHODS: This study explored this approach in the city of Kisangani. It was a prospective diagnostic accuracy study using genotype biological parents to evaluate HemoTypeSC's performance in the newborn. RESULTS: Fifty-eight children born to 46 known mothers, and 37 known fathers, have been tested. The phenotyping showed that 41 (70.7%) children were SS, whose 37 were born to a couple AS/AS and 4 to a couple AS/xx. Of the 41 SS children, 8 (19.5%) were newborns and 33 (80.4%) were children; 12 (20.6%) children were AS, one of whom was born to a couple SS/AA and 11 to a couple AA/SS; 5 (8.6%) children were AA. In this population, the probability of offspring born to AS/AS parents being SS rather than AS is high (odds, 1.25). No statistical difference was observed between girls and boys. The pedigree of all 58 children has been confirmed. CONCLUSION: We demonstrated that testing biological parents with HemoTypeSC is a reliable confirmatory method for newborn screening but it presents some limitations discussed in the present article.

Renal Abnormalities among Sickle Cell Disease Patients in a Poor Management Setting: A Survey in the Democratic Republic of the Congo.

Background and objective: Sickle cell disease (SCD) is now a well-established cause of renal damage. In the northeast of the Democratic Republic of Congo (DRC), SCD is common. However, sickle cell nephropathy remains unstudied in this region. Thus, this study aimed to assess renal abnormalities in SCD patients in Kisangani (northeastern DRC). Methods: This cross-sectional study included 98 sickle cell patients selected from six health facilities in Kisangani and 89 healthy non-sickle cell subjects as the control group. Based on a survey form, a clinical examination and biological tests were performed to collect data related to the sex, age, weight, height, pressure, serum creatinine, serum uric acid, urinary albumin/creatinine ratio, and hemoglobin phenotype. We used a spectrophotometer to measure serum creatinine and uricemia, the sickle SCAN® device for hemoglobin phenotype, and an automatic multifunction analyzer for urine albumin/creatinine ratio. Data were entered into an Excel file and analyzed on SPSS 20.0. Results: The mean urine albumin-to-creatinine ratio was 11.79±9.03 mg/mmol in SCD patients, significantly higher than in AA (1.69±1.89 mg/mmol) and AS (2.97±4.46 mg/mmol) subjects. The decrease in glomerular filtration rate was more observed in SCD patients with hyperuricemia compared to those with normal uric acid levels. A significantly elevated prevalence of chronic kidney disease was observed among SCD patients (87.8%) compared to 23.8% in AS and 7.7% in AA subjects. Conclusions: This study highlighted that albuminuria and chronic kidney disease are common in SCD patients in Kisangani. More studies are needed to further document these complications.

Does glucose-6-phosphate dehydrogenase deficiency worsen the clinical features of sickle cell disease? A multi-hospital-based cross-sectional study.

BACKGROUND: The impact of glucose-6-phosphate dehydrogenase deficiency(G-6-PD) on the clinical course of sickle cell disease(SCD) is still controversial. The objectives of this study were to determine the prevalence of G-6-PD deficiency in patients with SCD and its effect on their clinical course. METHODS: A cross-sectional study of 122 SCD patients and 211 healthy blood donors was conducted in Kisangani city. Data were collected through clinical examination supplemented by patient medical records, and laboratory tests based on a survey form. G-6-PD activity was measured by spectrophotometry and the screening for SCD by the HemoTypeSC® rapid test. Statistical analysis was done using SPSS ver. 20.0. RESULTS: The prevalence of G-6-PD deficiency did not differ between SCD and non-SCD subjects, 35.2% vs. 33.6% respectively(p = .767). When comparing the hemoglobin level between SCD patients with and without G-6-PD deficiency, no significant difference was observed. However, in the 6 months prior to the study, SCD patients with G-6-PD deficiency had on average more transfusions than non-deficient SCD patients, 0.64 ± 0.897 vs. 0.24 ± 0.486(p = .004). Similarly, considering the clinical events of the last 12 months prior to the study, there were more hospitalizations, major vaso-occlusive crises and anemia requiring blood transfusion among G-6-PD deficient SCD patients compared to no-deficient, respectively 1.42 ± 1.451vs. 0.76 ± 1.112(p = .007); 1.37 ± 1.092 vs. 0.85 ± 1.014(p = .005); 0.74 ± 0.902 vs. 0.38 ± 0.739 (p = .007). CONCLUSION: The prevalence of G-6-PD deficiency in SCD patients was high but did not differ from that observed in controls. In addition, G-6-PD deficiency appeared to worsen the clinical features of SCD. Nevertheless, prospective studies further clarifying this observation are needed.

Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo.

OBJECTIVES: Sickle cell disease (SCD) encompasses health complications, primarily affecting the hematologic system and leading to high death rates in childhood. As a rule, the World Health Organisation (WHO) stepwise gold-standard about the strategies for prevention, diagnosis, and treatment of SCD must be multidimensional. This overview aimed to highlight current advances and challenges linked to strategic issues, diagnosis, the prevalence, and treatment of pediatric cases in Sub-Saharan Africa, particularly the Democratic Republic of the Congo. METHODS: We searched data on Google Scholar, Medline, PubMed, Science Direct, Scopus, and ResearchGate. RESULTS: The laboratory diagnosis of SCD has progressed from conventional electrophoresis to rapid point-of-care tests that allows early neonate screening. HemoTypeSCTM is an affordable test for neonatal screening in DRC. The pediatric SCD prevalence in Sub-Saharan Africa lay within 1-7.7% of homozygous(SS) and 15-40% of the heterozygous(AS) forms of SCD, depending on the method used and the ethnic population tested. Various supportive management protocols for comorbidities and complications exist, but they are not standardized in the Region. CONCLUSION: Notwithstanding some progress accomplished, the disease is still challenging in Sub-Saharan Africa due to limited early diagnostic testing and a lack of specific medications. There is a need for harmonizing therapeutic protocols and conducting controlled valid clinical trials.

Management of sickle cell disease: current practices and challenges in a northeastern region of the Democratic Republic of the Congo.

BACKGROUND: The Democratic Republic of the Congo (DRC) is the third most affected country worldwide by sickle cell disease (SCD). However, this disease is still orphaned in the country; large-scale control actions are rare, and little is known about its management. OBJECTIVE: To assess current practices in the management of SCD in Kisangani, DRC. METHODS: This cross-sectional study was conducted in six health facilities in Kisangani. It involved 198 presumed sickle cell patients attending the above health facilities. The study focused on the sociodemographic and clinical data of the participants, obtained through a clinical examination and their medical records. Diagnostic confirmation of SCD was made by high-performance liquid chromatography coupled to mass spectrometry. Data were analyzed using SPSS 20.0. RESULTS: The diagnosis of SCD was confirmed in 194 (98.0%; 95% CI: 94.9-99.2) participants, while it was not confirmed in 4 (2.0%; 95% CI: 0.8-5.1) participants. The diagnosis was mainly made by the Emmel test (42.9%). 45.8% of participants had previously been transfused with the blood of their parents. Folic acid was taken by 48.5% of participants and the previous intake of hydroxyurea was reported in 5.1% of participants. The participants vaccinated against Pneumococcus were 13.6% and against Haemophilus influenzae type b 28.3%. Penicillin prophylaxis was received by only 1.5% and malaria prophylaxis by 11.6% of participants. CONCLUSION: Standard-care practices for SCD patients in Kisangani are insufficient. The Congolese government should regard this disease as a health priority and consider actions to improve its management.

Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo.

INTRODUCTION: Sickle Cell Disease (SCD) and albinism are both recessive hereditary diseases in human kind with a high prevalence in sub-Saharan Africa. This study aimed to determinate the prevalence of sickle cell trait in people living with albinism (PLA). METHODS: a cross-sectional descriptive survey was conducted in PLA attending the "Hôpital du Cinquantenaire de Kisangani". In total, by non-probabilistic convenience sampling, 82 albinos and 139 non-albinos and without any antecedents of albinism in their family were included, selected from students in the Faculty of Medicine and Pharmacy at the University of Kisangani. Blood samples were collected on "dried blood spot" and analyzed by mass spectrometry at CHU of Liège. Data were entered into an Excel file and analysed on SPSS 20.0 (Chicago, IL). RESULTS: forty-six of the 82 albinos (56.1%) were female and 43.9% male with a sex ratio of 1.28. Among albinos, 18.3% had hemoglobin AS (HbAS) and 81.7% hemoglobin AA (HbAA) compared to 18% of subjects with hemoglobin AS and 82% hemoglobin AA in the control group. The difference was not statistically significant (Chi-square=0.003, ddl=1, p=0.9544). CONCLUSION: this study highlighted that the prevalence of the sickle cell trait is high among people living with albinism, but does not differ from that observed in non-albinos in the Democratic Republic of the Congo. It is therefore important to raise awareness among this category of people about sickle cell disease and the importance of its premarital screening.

Students' knowledge on sickle cell disease in Kisangani, Democratic Republic of the Congo.

Background: Education is needed as an action to reduce morbidity and mortality from sickle cell disease (SCD), an important but largely neglected risk to child survival in most African countries as Democratic Republic of Congo (DRC).Objective: To assess the knowledge of Kisangani University students in DRC regarding SCD.Methods: In this non-experimental, cross-sectional study, a validated questionnaire was used to assess the knowledge of 2 112 Kisangani University students in DRC and data were analyzed using SPSS version 20.Results: Most participants, 92.9% (95% confidence interval [CI]: 91.7-93.9) were knowledgeable about SCD and have heard about it through schools and/or universities (46.3%), followed by family (34.5%) and health-care workers (23.5%). Nine hundred and seventy-three (46.1%; 95% CI: 44.0-48.2) and 37.9% (95% CI: 35.9-40.0) subjects indicated, respectively, that SCD is an acquired and hereditary disease. Moreover, 53.6% (95% CI: 51.5-55.7) said that the diagnosis of SCD is made by blood tests, while 46.2% (95% CI: 44.1-48.3) talked about urine tests. About 85.6% were unaware of the risk of children becoming sickle cell patients when both parents have SCD. To prevent SCD, pre-marital screening was cited by only 7.7% (95% CI: 6.6-8.9) of subjects and no measure was known by 25.4% (95% CI: 23.6-27.3). However, 79.6% (95% CI: 77.8-81.3) approved the need of pre-marital screening of SCD.Discussion: This study highlighted that the Kisangani university students' knowledge regarding SCD is poor and needs to be improved; education programs and motivational campaigns to be enhanced.

Acceptabilité du dépistage néonatal de la drépanocytose au cours de la pandémie au COVID-19 à Kisangani, en République Démocratique du Congo

Introduction: l´implémentation du dépistage néonatal de la drépanocytose pendant la pandémie se coronavirus (COVID-19) représente un défi majeur en République Démocratique du Congo (RDC). La présente étude vise à déterminer si des facteurs socio-économiques sont associés à l´acceptabilité du dépistage néonatal de la drépanocytose pendant la COVID-19 à Kisangani, en RDC. Méthodes: étude observationnelle conduite dans les maternités de Kisangani du 21 mars au 30 juin 2020 chez les mères sensibilisées au dépistage néonatal de la drépanocytose de leurs nouveau-nés à l´hemotypeSCTM (HT401RUO-USA). Les données recueillies étaient la parité, le niveau d´étude, l´âge, le niveau socio-économique, la profession, la notion de sensibilisation et le motif du refus du dépistage. Résultats: sur 55,5% (273/492) des mères sensibilisées, 107 (39,19 %) ont accepté et 166 (60,80 %) ont refusé le dépistage néonatal de la drépanocytose chez leur nouveau né. Les motifs du refus étaient l´absence d´information (67,5%;IC 95% [59,8-74,5]), le manque d´argent dû au confinement (66,3%;IC 95% [58,5-73,4]), la prise de sang pour tentative du vaccin anti-COVID-19 (63,2%; IC 95% = [55,4-70,6]). Les Facteurs associés à l´acceptabilité du dépistage étaient l´âge > 35 ans (p = 0,0009; ORa = 3,04; IC 95% = 1,57-5,87) et le bas niveau socio-économique (p = 0,0016; ORa = 2,29; IC à 95% = 1,37-3,85). Conclusion: l´acceptabilité du dépistage néonatal de la drépanocytose pendant la COVID-19 reste faible à Kisangani. Le gouvernement devrait identifier les canaux de communication efficaces afin de promouvoir les initiatives dans le secteur de la Santé