Crise vaso-occlusive drépanocytaire sévère: aspects cliniques, étiologiques et thérapeutiques au CHU Sylvanus Olympio de Lomé / Clinical, aetiological and therapeutic features of severe sickle cell related vaso-occlusive crisis at the Sylvanus Olympio University Hospital, Lomé

Introduction: la crise vaso-occlusive (CVO) est la plus fréquente manifestation de la drépanocytose et la première cause d´hospitalisation des enfants atteints. L´objectif de cette étude est de décrire les aspects cliniques des CVO sévères, de déterminer les étiologies des syndromes infectieux qui les accompagnent et de décrire leur prise en charge. Méthodes: il s'agit d'une étude transversale descriptive portant sur 137 drépanocytaires majeurs hospitalisés pour CVO sévères du 1er janvier 2009 au 31 décembre 2011 dans le service de pédiatrie du CHU Sylvanus Olympio. Résultats: les drépanocytaires homozygotes SS étaient les plus nombreux (n=98; 71,5%), suivis des doubles hétérozygotes SC (n=28; 20,5). Le délai moyen de consultation était de 4,7 ± 4,4 jours. Le traitement avant l´admission comportait des antibiotiques (28,5%). Les CVO étaient surtout ostéo-articulaires (70,8%). Dans 98,5% des cas, une infection bactérienne associée a été confirmée (48,9%) ou présumée (49,6%). Les principales étiologies étaient le syndrome thoracique aigu (26,3%), l´ostéomyélite aiguë (10,9%), l´infection urinaire (6,6%), la septicémie (3,6%). Un germe a été isolé chez 14,6% des patients, Escherichia coli (30%) étaient en tête suivi de Klebsiella pneumoniae (25%), Staphylococcus aureus (15%), Salmonella typhi (10%), Streptococcus pneumoniae (5%), le Streptocoque D (5%), l´Enterobacter (5%) et l´Acinetobacter (5%). Le taux de mortalité était de 2,2%. La durée moyenne d´hospitalisation était de 11,4 ± 8,8 jours. Conclusion: les CVO drépanocytaires sévères sont en majorité associées aux infections bactériennes en milieu tropical. Une antibiothérapie adaptée et précoce constitue le moyen thérapeutique indispensable pour prévenir ou traiter ces patients.

Introduction: vaso-occlusive crisis (VOC) is the most common manifestation of sickle cell disease and the leading cause of hospitalization among affected children. The purpose of this study is to describe the clinical features of severe VOCs, to determine the etiologies of infectious syndromes that accompany them and to describe their management. Methods: we conducted a descriptive cross-sectional study of 137 adult patients with sickle cell disease hospitalised for severe VOC in the Paediatric Department of the Sylvanus Olympio University Hospital from 1 January 2009 to 31 December 2011. Results: the majority of patients (n=98; 71.5%) had homozygous sickle cell (SS), followed by double heterozygous SC disease (n=28; 20.5). The median of consultation time was 4.7 ± 4.4 days. Treatment before admission was based on antibiotics (28.5%). VOCs were mainly osteoarticular (70.8%). In 98.5% of cases, an associated bacterial infection was confirmed (48.9%) or suspected (49.6%). The main etiologies included acute chest syndrome (26.3%), acute osteomyelitis (10.9%), urinary tract infection (6.6%) and septicaemia (3.6%). One germ was isolated from 14.6% of patients: Escherichia coli (30%), followed by Klebsiella pneumoniae (25%), Staphylococcus aureus (15%), Salmonella typhi (10%), Streptococcus pneumoniae (5%), Streptococcus D (5%), Enterobacter (5%) and Acinetobacter (5%). Mortality rate was 2.2%. The average length of stay in hospital was 11.4 ± 8.8 days. Conclusion: severe sickle cell related vaso-occlusive crisis is mainly associated with bacterial infections in tropical environments. Appropriate and early antibiotic therapy is the essential therapeutic means to prevent or treat these patients.

Plasma lipid levels in relation to disease severity in sickle cell anaemia in Abakaliki, Southeast Nigeria

Dyslipidaemia has been implicated in the pathophysiology of sickle cell disease (SCD) complications; hence its role requires further elucidation. Objectives: To investigate the relationship between disease severity and plasma lipid levels of patients with sickle cell anaemia. Methods: A cross-sectional study design was used for the survey. A total of 50 patients with sickle cell anaemia and 50 controls without SCD were recruited for the study. The clinical data and plasma lipid levels of lipids and haemoglobin parameters were analysed. Results: The majority of the participants were aged 18-25 years. Total plasma cholesterol and HDL-C were significantly lower in individuals with SCA compared with the controls (3.3±1.2 vs 4.2±1.2; p<0.001) and (1.3±0.5 vs 1.5±0.4; p = 0.038) respectively. Most patients with SCA had moderate disease severity (24; 48%). There was no statistically significant difference in the plasma levels of total cholesterol and HDL-C across the disease severity groups of SCA (p = 0.694 and 0.262). There was also no significant correlation between total cholesterol, HDL-C, and markers ofhaemolysis, haemoglobin F, and haemoglobin S levels. Conclusion: SCA is characterised by lower mean plasma TC and HDL than controls. However, no relationship was found between TC, HDL levels and SCD disease severity, markers of haemolysis, HbF and HbS levels. Further studies are required to ascertain the implications of plasma lipid levels in SCD

Profilage phytochimique par chromatographie sur couche mince haute performance d'extraits de flavonoïdes totaux du Drepanoalpha® et évaluation de leur activité anti-drépanocytaire in vitro / In vitro evaluation of anti-sickling activity of crude flavonoid extracted from Drepanoalpha® and their phytochemical profiling by high performance thin layer chromatography

Contexte et objectif. Le défi le plus important dans la drépanocytose consiste à améliorer l'état de santé des patients dans les pays en développement. L'une des meilleures solutions est donc le développement de la phytomédecine basée sur la connaissance de la pharmacopée traditionnelle. L'objectif de la présente étude était d'évaluer les activités anti-drépanocytaires des flavonoïdes totaux extraits du phytomédicament Drépanoalpha® d'une part et déterminer leur profilage chimique par chromatographie sur couche mince haute performance d'autre part. Méthodes. Les flavonoïdes totaux ont été obtenus par fractionnement de l'extrait méthanolique par chromatographie flash (PURIFLASH COLUMN 30 SILICA HP - 12,0 g) et purifies à l'aide d'une cartouche (Polymeric Reversed Phase) puis caractérisés et dosés par chromatographie sur couche mince haute performance (CCMHP). L'activité anti-drépanocytaire a été mise en évidence grâce aux tests d'Emmel, de polymérisation, de rapport Fe2+/Fe3+, d'hémolyse et de la fragilité osmotique membranaire. Résultats. La poudre du Drépanoalpha® contenait une quantité de flavonoïdes totaux de 8,14 mg équivalent de quercétine/g d'extrait. Les flavonoïdes totaux extraits du Drépanoalpha® possèdent une activité antifalcémiante (avec le taux maximal de normalisation d'environ 90 % et une concentration minimale de normalisations de 11,4 µg/mL), un taux d'augmentation du rapport Fe2+/Fe3+ de 97,0 %, une activité anti-hémolytique avec une fragilité corpusculaire membranaire des érythrocytes (FCM) de 0,73 et un taux d'inhibition de la polymérisation de 77,5%. Conclusion. La pertinence des résultats de cette étude permet de confirmer les flavonoids comme phytomarqueur pour le contrôle de qualité et de standardisation de cet alicament.

Assessment of MTR Rs1805087 SNP as Possible Modifier ofSickle Cell Disease Severity in a Nigerian Population

BACKGROUND: Sickle cell disease is the commonest geneticdisorder in Nigeria, affecting 2­3% of an estimated population of 160million people. The role of genetic mutations in folate cycle genes,and the variable phenotypic expressions constituting disease severity,needs to be critically examined.OBJECTIVE: This study was carried out to establish the pattern ofmethionine synthase gene mutations (rs1805087 SNP), and its possibleassociation with disease severity in adults with sickle cell anaemia inLagos, Nigeria.METHODOLOGY: This is a cross-sectional study of seventy (70)subjects with sickle cell disease (HbSS) matched for age and genderwith known apparently healthy haemoglobin genotype AA (HbAA)subjects, as cases and controls respectively. Structured questionnaireswere used to obtain demographic, clinical and other phenotypic dataneeded to compute disease severity. Pattern of MTR A2756G genemutation and homocysteine assay (Hcy) were assessed by PolymeraseCh ain Reaction and Enzyme- linked Immun osorbent Assayrespectively. Full blood count analysis of participants was done usingthe KX-21 Automated Analyzer (Sysmex Corporation, Japan).RESULTS: The mutant genotypes MTR 2756 AG/GG were recordedin 46.4% (n =55) of subjects with disease severity score >7. Elevatedplasma homocysteine (HHcy) was significantly associated withdisease severity among HbSS subjects (OR=17.2, CI: 3.490-86.079;p=0.0001). Conversely, no significant association was observed withthe mutant genotypes MTR 2756 AG/GG and disease severity(p>0.05).CONCLUSION: While HHcy is significantly associated withphenotypic expression of HbSS, the MTR 2756 SNPs did not appearto independently influence homocysteine level or disease severity inHbSS subjects

A review of the role of infections in the aetiology of haemolysis in patients with sickle cell diseases: pathogenesis, management, and prevention

Background: Sickle cell disease (SCD) is associated with chronic haemolysis, immuno-suppression and susceptibility to infections, which may trigger infection-associated haemolysis (IAH). SCD patients are vulnerable to anaemic effect of IAH due to vicious interaction between pre-existing 'inherited' chronic haemolysis and 'acquired' IAH. IAH in SCD manifests as febrile haemolytic crisis with clinical and laboratory features of severe anaemia or pancytopenia. Clinico-pathological perspectives of IAH in SCD are fragmented. This review presents a comprehensive but concise overview of pathogenesis, management and prevention of IAH in SCD. Methodology and results: Online literature search using search terms such as 'sickle cell disease, viral, bacterial, parasitic, fungal, infections, hyperhaemolytic crisis, haemophagocytic syndrome, severe anaemia, pancytopenia' in various combinations was done on PubMed/Medline, Google, Google-Scholar and Bing. Overall, 112 relevant publications were retrieved, which included 109 peer reviewed journal articles, 2 World Health Organization (WHO) technical reports, and 1 edited text book. A range of bacterial (Bartonella spp, Mycoplasma spp., Mycobacterium avium complex), viral (Dengue, SARS-CoV-2, Parvovirus-B19, Cytomegalovirus, Epstein-Barr virus), parasitic (Plasmodium spp., Babesia spp.), and fungal (Histoplasma spp.) infections were associated with IAH in SCD. There are two broad types of IAH in patients with SCD; infection associated extra-medullary haemolysis (IAEMH) and infection associated intra-medullary haemolysis (IAIMH). While IAEMH is associated with severe anaemia due to intravascular haemolysis caused by red cell invasion, oxidative injury, auto-antibodies, and/or pathogen-haem interaction, IAIMH is associated with haemophagocytic tri-lineage destruction of haematopoietic precursors in the bone marrow. Conclusion: Various microbial pathogens have been associated with IAH in SCD. SCD patients with fever, severe anaemia or pancytopenia should be investigated for early diagnosis and prompt treatment of IAH, which is a lifethreatening haematological emergency for which transfusion therapy alone may not suffice. Prompt and sustainable termination of IAH may require therapeutic combination of transfusion, anti-microbial chemotherapy, and immune modulation therapy. SCD patients should also receive counselling on hygiene, barrier protection against vectors, routine chemoprophylaxis for locally endemic diseases, and immunization for vaccine-preventable infections as a long-term preventive strategy against IAH.

Folate levels in children with sickle cell anemia on folic acid supplementation in steady state and crises at a tertiary hospital in Enugu, Nigeria a prospective, comparative study

Folic acid supplementation is an integral aspect of the management of children with sickle cell anaemia (SCA) especially in Africa. In spite of this, there have been concerns about lower folate levels, especially during crisis. AimTo determine red cell folate levels of children with sickle cell anaemia in steady state and during crisis and compare with those with haemoglobin AA genotype. Method This study was prospective, hospital based, and comparative. Fifty children with sickle cell anaemia were recruited during crises and followed up until they met the criteria for attaining steady state. The controls were fifty children matched with those with SCA for age and gender and had haemoglobin AA genotype. Red cell folate estimation was done with the Electrochemiluminescence Immunoassay (ECLIA) method using the automated Roche Cobas e411 equipment. Results The median (IQR) red cell folate level in children during sickle cell crisis was 265.95 (134.50) ng/ml, which was significantly lower than the median (IQR) of 376.30 (206.85) ng/ml obtained during steady state. Most children with SCA (41 out of 50) had significantly higher folate levels during steady state (T=1081, Z-score= -4.660, p < 0.001). Median level of red cell folate was lower during anaemic crisis compared to vaso-occlusive crisis, though not significantly so (N(50), U = 214.00, Z-score= -1.077, p = 0.305). The median red cell folate level of normal controls was 343.55 (92.90) ng/ml, which was significantly lower than the 376.30 (206.85) ng/ml obtained during steady state (N(50), U= 209.00, Z-score= -7.177, p <0.001). Conclusion Median red cell folate levels of the study participants were within normal limits, though most children with SCA had significantly higher levels during steady state compared to crisis. Normal controls had significantly lower red cell folate levels than the children with SCA during steady state

Indications et résultats de la splénectomie chez le drépanocytaire au Centre Hospitalier Universitaire de Libreville / Indications and results of splenectomy in sickle cell patients at the University Hospital Center of Libreville

Introduction : la drépanocytose est une affection génétique héréditaire responsable d'une déformation des hématies en «faucilles¼. Elle peut engendrer de nombreuses complications parmi lesquelles la séquestration splénique et l'hypersplénisme. La splénectomie fait partie de l'arsenal thérapeutique, induisant un état d'hyposplénie ou d'asplénie aux conséquences parfois mortelles, surtout chez le sujet drépanocytaire. Le but de ce travail mené au service de chirurgie du centre hospitalier universitaire de Libreville au Gabon, est de déterminer les indications et les résultats à moyen terme de la splénectomie chez le drépanocytaire.Matériel et méthodes : il s'agissait d'une étude rétrospective, descriptive et monocentrique allant d'octobre 2016 à avril 2019. Tous les dossiers des patients drépanocytaires opérés d'une splénectomie seule ou associée à un autre geste chirurgical étaient retenus.Résultats : au total treize patients ont été inclus dans notre étude. L'âge moyen des patients était de 10,7 ans [3-25 ans]. L'indication opératoire était l'hypersplénisme (8 cas), la séquestration splénique (3 cas), et l'infarctus splénique (2 cas). Tous les patients étaient opérés d'une splénectomie totale par laparotomie. La vaccinothérapie et l'antibioprophylaxie post-opératoire étaient réalisées chez tous les patients. Aucune complication post-opératoire immédiate ni aucun décès n'avaient été noté chez tous les patients.Conclusion : l'indication des splénectomies chez le drépanocytaire est dominée par l'hypersplénisme. Dans notre context la splénectomie totale par laparotomie semble être la règle. La vaccination prophylactique est bien administrée. La morbi-mortalité post-opératoire immédiate est nulle.

Introduction: Sickle cell disease is a genetic inherited disorder responsible for the deformation of red blood cells into"sickles". It can lead to many complications including splenic sequestration and hypersplenism. Splenectomy is the indicated gesture. It induces a state of hyposplenia or asplenia with dreadful consequences, sometimes fatal especially in this sickle cell patient. The aim of this work, conducted at the Surgery Department of Libreville University Hospital Center in Gabon, is to determine the indications and results of splenectomy in sickle cell patients.Material and methods: this was a retrospective, descriptive and single-center study from October 2016 to April 2019.All records of sickle cell patients undergoing splenectomy alone or with other surgical procedures were included.Results: a total of thirteen patients were included in our study. The average age of the patients was 10.7 years [3-25years]. The operative indication was hypersplenism (8 cases), splenic sequestration (3 cases), and splenic infarction(2 cases). All patients underwent total splenectomy under laparotomy. Vaccine therapy and postoperative antibiotic prophylaxis were performed in all patients. No immediatepostoperativecomplications or deaths were noted in all patients. Conclusion: the indication of splenectomies in sickle cell disease is dominated by hypersplenism. In our context, total splenectomy under laparotomy was the rule. Prophylactic vaccination is well administered. Immediate postoperative morbidity and mortality is nil.

Profil clinique, biologique et traitement des drépanocytaires régulièrement suivis au Centre Hospitalier Universitaire de Libreville / Clinical, biological and treatment profile of sickle cell patients regularly followed at Libreville University Hospital Center

Introduction: La mise en place depuis Septembre 2016 au Centre Hospitalier Universitaire (CHUL) d'une consultation d'hématologie dédiée aux adultes drépanocytaires a été l'occasion de mener cette étude dont le but principal était d'établir les profils clinique et paraclinique de l'adulte drépanocytaire régulièrement suivi.Patients et méthodes : Il s'agissait d'une étude rétrospective. La population d'étude était constituée de patients drépanocytaires homozygotes de 18 ans et plus, qui avaient effectués au moins trois consultations d'hématologie sur une année. Les informations recueillies, après étude du dossier médical et entretien téléphonique avec le patient, concernaient les données socio-démographiques, l'histoire de la drépanocytose, les antécédents, les complications de la maladie, les examens biologiques et radiologiques et le traitement.Résultats : Au total 88 patients répondaient aux critères d'inclusion sur les 233 drépanocytaires vus durant la période de l'étude. L'âge moyen était de 30,4 ± 7,8 ans. L'interrogatoire révélait que la crise vaso-occlusive (CVO) était la principale complication aiguë et la lithiase vésiculaire (36,3%) la première complication chronique. L'hémoglobine moyenne était de 7,8 g/dl et pour 49,3% des patients elle se situait entre 7 et 9 g/dl. Les leucocytes étaient augmentés dans 65,7%. L'échographie cardiaque réalisée chez 35 patients retrouvait 11,1% d'hypertension artérielle pulmonaire et 22,8% d'hypertrophie ventriculaire gauche. L'intensité de la crise douloureuse motivait une consultation au service des urgences du CHU dans 81,6% des cas dont plus de 62% déploraient un retard dans l'exécution de cette prise en charge bien qu'ils en aient été satisfaits dans 54,9% des cas.Conclusion : Les drépanocytaires adultes régulièrement suivis au CHUL sont peu nombreux. La transition entre le suivi pédiatrique et adulte doit se faire avec une transmission des informations du dossier médical sur l'histoire de la drépanocytose.

Introduction: The establishment since September 2016 at the University Hospital Center (CHUL) of a hematology consultation dedicated to adults with sickle cell disease was an opportunity to conduct this study, the main purpose of which was to establish the clinical and paraclinical profiles of the adults with sickle cell disease regularly monitored. Patients and methods: This was a retrospective study. The study population consisted of homozygous sickle cell patients aged 18 and over, who had performed at least three hematology consultations over a year. The information collected, after studying the medical file and telephone interview with the patient, concerned socio-demographic data, history of sickle cell disease, history, complications of the disease, biological and radiological examinations and treatment. Results: A total of 88 patients met the inclusion criteria out of the 233 sickle cell patients seen during the study period. The mean age was 30.4 ± 7.8 years. The questioning revealed that vaso-occlusive crisis (VOC) was the main acute complication and cholelithiasis (36.3%) the first chronic complication. The average hemoglobin was 7.8 g/dl and for 49.3% of the patients it was between 7 and 9 g/dl. Leukocytes were increased in 65.7%. Cardiac ultrasound performed in 35 patients found 11.1% pulmonary arterial hypertension and 22.8% left ventricular hypertrophy. The intensity of the painful crisis motivated a consultation in the emergency department of the CHU in 81.6% of cases, of which more than 62% complained of a delay in the execution of this care although they were satisfied with it in 54 .9% of cases.Conclusion: Few adult sickle cell sufferers are regularly monitored at the CHUL. The transition between pediatric and adult follow-up must be made with a transmission of information from the medical file on the history of sickle cell disease

Operational analysis of the national sickle cell screening programme in the Republic of Uganda

Background: Sickle cell anaemia is a common global life-threatening haematological disorder. Most affected births occur in sub-Saharan Africa where children usually go undiagnosed and die early in life. Uganda's national sickle cell screening programme was developed in response to a 2014 sickle cell surveillance study that documented a high disease prevalence. Objective: This study describes the temporal and financial aspects of Uganda's 2014­2019 sickle cell screening programme. Methods: National sickle cell screening data from Uganda's Central Public Health Laboratories were used to calculate turn-around times (TATs) from sample collection to delivery, testing, and result reporting for blood samples collected from February 2014 to March 2019. The parameters affecting specific TATs were assessed. The exact programme expenditures were analysed to determine cost per test and per positive sickle cell disease case detected. Results: A total of 278 651 samples were analysed. The median TAT from sample collection to laboratory receipt was 8 days (interquartile range [IQR]: 6­12), receipt to testing was 3 days (IQR: 1­7), and testing to result reporting was 6 days (IQR: 3­12). Altogether, the sample continuum averaged 16 days (IQR: 11­24). Lower level healthcare facilities were associated with longer sample delivery TATs. Calendar months (January and December) and larger sample volumes impacted testing and result reporting TATs. The cost per test was $4.46 (United States dollars [USD]) and $483.74 USD per positive case detected. Conclusion: Uganda's sickle cell screening programme is efficient and cost-effective. Universal newborn screening is the best strategy for detecting sickle cell anaemia in Uganda.

Young People's Knowledge of Sickle Cell Disease and Willingness for Genotype Screening in Ibadan, Nigeria

Sickle Cell Disease (SCD) is prevalent in Nigeria with 150,000 new cases yearly, owing to poor knowledge, poverty and lack of screening. This study investigated knowledge and willingness to undergo genotype screening among young people who might be contemplating marriage or reproduction during or soon after the National Youth Service Corps (NYSC); the compulsory one-year service for all Nigerian graduates from tertiary institutions. The study was a descriptive cross-sectional design, carried out amongst 355 respondents using a stratified random sampling. Both qualitative and quantitative methods were employed with due ethical considerations and analysis. The age range was between 18 and 30 years, with more female (54.6%) respondents. Almost all (96.3%) of the respondents have heard about SCD. The prevalence of SCD in the families of the respondents was 10.1% and majority (87.0%) have had genotype screening. Many (60.6%) had good knowledge about SCD but less than half (44.5%) could state the difference between genotype and blood group. Statistical associations were recorded between level of knowledge and gender, discipline of study and willingness. Concerted efforts should be geared towards SCD health education and screening using the platform of corps members' during their orientation and weekly community development programmes.

Drépanocytose en République Démocratique du Congo : l'hydroxyurée est peu disponible et rarement accessible pour les patients

Contexte et objectifs. L'hydroxyurée est connu efficace dans la prise en charge des crises drépanocytaires. L'objectif de la présente étude était d'établir la disponibilité et d'évaluer le cout moyen de ce médicament en République Démocratique du Congo (RDC). Méthodes. Une étude transversale descriptive a été réalisée dans 188 pharmacies de deux villes (une grande, Lubumbashi versus une enclavée, Mbuji Mayi en RDC, entre les 1er avril et 1er septembre 2017. Seules des questions fermées ont été posées, avec des choix soit dichotomiques soit multiples. Résultats. L'hydroxyurée n'était disponible que dans 22% des pharmacies participantes (41/188) et beaucoup plus fréquemment dans celles d'une grande ville que dans celles d'une ville reculée (34/96 contre 7/92). La plupart des patients ont présenté une ordonnance médicale (36/41 soit 88% d'entre eux) pour obtenir le médicament. Le prix de l'hydroxyurée variait entre 10 et 35 $, avec un prix moyen de 15 $ pour une boîte de 25 gélules. Ce prix est onéreux pour le pouvoir d'achat de la majorité des patients drépanocytaires. Conclusions. Cette étude montre que l'hydroxyurée est à la fois peu disponible dans les pharmacies en RDC et peu accessible financièrement pour beaucoup de patients drépanocytaires

Glomerular filtration rate in homozygous sickle cell disease children in steady state and healthy Nigerian children: a comparative study in north-eastern Nigeria

Background: Homozygous sickle cell disease (HSCD) is the most common inherited blood disorder of public health importance worldwide, with Sub-Saharan Africa accounting for a third of the global burden. The effect of HbS on the kidneys results in sickle cell nephropathy, which contributes to increased mortality among HbSS patients beyond third decade of life. Glomerular filtration rate (GFR) is an important renal function test for evaluating progress of sickle cell nephropathy, however, this is seldom done to HbSS patients especially in the insurgency that devastated the North-eastern part of Nigeria, where displacement of people has led to increase in diarrhoeal diseases with its complications which also contributes to renal diseases, hence the need for this study. Objective: To determine the baseline glomerular filtration rate of homozygous SCD in steady state and compare same with normal controls. Methods: This is a prospective comparative study conducted at the University of Maiduguri Teaching Hospital (UMTH). The study population consisted of age and sex matched HbSS subjects in steady state and children with haemoglobin AA genotypeaged 3-14 years. The study was conducted over a period of 6 months. Anthropometry and serum creatinine of the subjects were determined and GFR calculated using Schwartz formula. Results: Two hundred and twenty children consisting 110 HbSS and 110 controls were enrolled. This consist of 106 males and 114 females with M:F ratio of 0.9:1. Mean ages of HbSS patients and HbAA subjects were 8.2years and 7.9 years respectively. The mean GFR (SD) was 125.9 (31.9) ml/min/1.73m2 and 93.0 (16.1) ml/min/1.73m2 for the HbSS and HbAA controls, the difference between the means was significant (P<0.001). The normal GFR range for the controls was 77 to 109 ml/min/1.73m2. Sixty-seven (61%) casesand 86 (78%) controls had GFRs within normal range. There was statistically significant difference for GFRs above and below the normal range (Z-score=6.2 & -2.9, p<0.001 & p<0.004). Conclusion: About a third of HbSS children in steady state have elevated GFR, this suggests the presence of moderate renal pathology. Regular monitoring of these children will lead to improvements in management of sickle cell nephropathy and their quality of life

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

Bone marrow invasion by aspergillus specie in a sickle cell trait patient with invasive aspergillosis: a fatal case in association with disseminated intravascular coagulation

Background: Invasive aspergillosis has been predominantly associated with pulmonary infection, particularly amongst immunocompromised individuals. Extrapulmonary infections with Aspergillus specie have been reported rarely irrespective of immune status. Risk factors for invasive aspergillosis include prolonged and severe neutropenia, haematopoietic stem cell and solid organ transplantation, advanced AIDS, and chronic granulomatous disease. The most frequently involved specie is Aspergillus fumigatus that constitutes over 90% of cases, followed by Aspergillus flavus, usually associated with a primary skin infection. Haematogenous spread to the bone causing osteomyelitis is the commonest form of disseminated aspergillosis and a surprisingly high proportion of these patients have no immunosuppression. We present a rare case of bone marrow invasion by Aspergillusspp. in a 3-year-old patient with sickle cell trait and chronic Aspergillosis. Case report: A 3-year-old patient with sickle cell trait was brought to the paediatric unit with recurrent diarrhoea, abdominal distention, weight loss and persistent cough. The child was severely wasted with generalised peripheral lymphadenopathy. She had marked respiratory distress and hepatosplenomegaly but no demonstrable ascites. Haematologic examination revealed leukaemoid reaction (leukocyte count of 44.0 x 109/L) with monocytosis (10%) and thrombocytopenia (platelet count of 97,000/mm3); no blast cells were seen on blood film. The bone marrow was hypercellular with a myeloid/erythroid ratio of 20:1, consistent with infection. Bone Marrow culture yielded Aspergillus spp. and other results of sepsis work up were negative. Conclusion: Cases of extrapulmonary invasive aspergillosis have been reported rarely in both immunocompetent and immunocompromised patients. Haematogenous spread to the bone is the commonest form of disseminated disease

Co-infection of Parvovirus B19 and Plasmodium falciparum among Sickle Cell Disease Patients in Benin City, Nigeria

Background: Infections by parasites, bacteria, viruses such as human parvovirus B19 amongst others, have been widely reported as contributing to high prevalence of anaemia in many populations. This study was conducted to determine the co-infection of Plasmodium falciparum and human parvovirus B19 among sickle cell disease (SCD) patients in Benin City, Edo State, Nigeria. Methodology: A total of 400 participants consisting 300 SCD patients (134 males, 166 females) and 100 (38 males, 62 females) apparently healthy subjects with haemoglobin AA (which served as control) who were contacted in homes, schools and offices, were enrolled for the study. The age of the participants ranged from 1 to 54 years. Venous blood was collected for detection of P. falciparum using Giemsa stain while parvovirus B19 was detected with enzyme linked immunosorbent assay (ELISA). Full blood count was estimated using Sysmex KX-21N haematology auto-analyzer. Results: An overall prevalence of parvovirus B19 and P. falciparum co-infection observed among SCD patients in this study was 3.0% while single infection was 14.0% for P. falciparum and 26.7% for parvovirus B19. Religion was associated with 0 to 22 fold increased risk of acquiring co-infection of P. falciparum and parvovirus B19. Gender was significantly associated with P. falciparum infection (p=0.0291) while tribal extraction, platelet index and seasonal variation were significantly associated with single parvovirus B19 or co-infection of P. falciparum and parvovirus B19 (p<0.05). Conclusion: The provision of strict regulatory policy concerning the screening of whole blood or pooled plasma before the use of blood products and transfusion of SCD patients is advocated

Oxidative stress markers and disease severity among children with sickle cell anaemia

Background: Sickle cell anaemia has been associated with oxidative stress. Total Antioxidant Capacity (TAC), Total Oxidant Status (TOS) and Oxidative Stress Index (OSI) are cumulative markers of oxidative stress. Objective: To evaluate the serum levels of oxidative stress markers in children with sickle cell anaemia (SCA) and determine the relationship between these markers and disease severity. Method: One hundred and fifty-six children, comprising 78 with SCA, aged 1 - 15 years and 78 age- and sex-matched Haemoglobin AA controls were studied. Serum TOS, OSI, and TAC were determined using ELISA kits. The severity of the SCA was determined using clinical and laboratory parameters. Result: Children with SCA had lower mean serum TAC (0.83±0.31UAE) than controls (1.19±0.24UAE) with p< 0.001) but positive correlation with TOS (r = 0.3, p = 0.008) and OSI (r = 0.6, p < 0.001). Conclusion: Children with SCA had lower TAC but higher TOS and OSI than matched controls. Oxidative stress markers had a significant relationship with SCD severity

Elevated unidentified antibodies in sickle cell anaemia patients receiving blood transfusions in Cape Town, South Africa

Background. Sickle cell disease (SCD) is an inherited haemoglobinopathy in which homozygous individuals suffer from numerous complications including vaso-occlusion, infection and haemolytic anaemia. Patients therefore often require blood transfusions, which may lead to elevated levels of allogeneic antibodies. In South Africa (SA), the number of patients with SCD has risen significantly owing to migration and changing demographics, leading to an increased need for blood products.Objectives. Against the above background, to determine the incidence of alloimmunisation and the presence of clinically significant antibodies in SCD patients requiring transfusions in Cape Town, SA.Methods. Information on SCD patients receiving blood products between 2010 and 2012, including demographics, number of units transfused and the presence and type of alloantibodies, was collected. The results were compared with those for non-SCD controls who had received a similar number of transfusions.Results. Of 182 patients analysed, 91 had SCD. Twenty-two percent of the SCD patients and 13.2% of the controls had become alloimmunised (p=0.12), while the proportions of those receiving transfusions and acquiring clinically significant antibodies were similar between the two groups (p=0.17 and p=0.19, respectively). However, the total number and amount of unidentified antibodies were significantly increased in patients with SCD (p=0.02 and p<0.001, respectively).Conclusions. This study concluded that patients with SCD develop increased numbers of unidentified antibodies, which may be important in the selection of suitable donors

Genetic Diseases and Prenatal Genetic Testing: Knowledge Gaps, Determinants of Uptake and Termination of Pregnancies among Antenatal Clinic Attendees in Lagos, Southwest Nigeria

Background: Though prenatal genetic testing has been shown to have immense benefits, reports suggest it is not routinely done and is unavailable to many pregnant women in Nigeria. Factors associated with prenatal genetic testing as well as ethical aspects of consequent options available need to be assessed if prenatal testing is to be proposed to Nigerian women. Aims: This study evaluated the knowledge of genetic diseases and prenatal genetic testing, willingness to test, attitudes towards testing, use of common tests available as well as willingness to terminate affected pregnancies among antenatal clinic attendees in selected health facilities in an urban local government area (LGA) in Lagos, southwest Nigeria. Materials and Methods: This was a descriptive cross-sectional study. The study participants were 327 pregnant women in any of the three trimesters of pregnancy interviewed with structured questionnaires in two primary and one secondary health facility in the Local Government Area. Collected data was analysed using Epi-Info 7.2 statistical software. Results: Respondents' mean age was 30 years ± 4.22. Majority of the respondents had post-secondary education, were experiencing their first pregnancy, and had no previous pregnancies or relatives with genetic diseases. More than half (69.4%) of the respondents had poor knowledge of genetic diseases. Almost all the respondents (97.6%) had poor knowledge of prenatal genetic testing. Majority of respondents (61.8%) were willing to undergo testing. Only 23.9% of the respondents had good attitude scores. Majority (26.9%) of the participants who had made use of a prenatal screening or diagnostic test had made use of ultrasound and blood test before three months of pregnancy. Only 10.1% of the population stated that they would opt to terminate affected pregnancies. Knowledge of genetic diseases significantly correlated with decision to terminate affected pregnancies. Conclusion: Education and approaches to ensure improved supportive care and treatment for children with genetic diseases should be explored in our environment

Barriers to healthcare for sickle cell disease patients in Democratic Republic of Congo

Introduction: The World Health Organization estimates that up to 70% of sickle cell deaths in sub-Saharan Africa are preventable by implementing measures that include early diagnosis, information, education and prophylaxis of infections. In the city of Kisangani, in the Tshopo province of the Democratic Republic of the Congo, identifying difficulties in access to care will help guide interventions to fight sickle cell anemia. The aim of this study was to identify the barriers preventing sickle cell patients from accessing care in the Democratic Republic of Congo.Methods: This cross-sectional study involved 158 sickle cell patients who consulted at least once in one of the general hospitals in Kisangani in 2010. The interview guide included questions about social representations and knowledge about the disease, perceptions and knowledge of the provision of health services and financial accessibility to health facilities.Results: For 44.9% of the study participants attribute sickle cell disease to demonic origin or divine curse. The cost of care associated with sickle cell anemia is unaffordable for 93.6% of participants. The 77.8% and 44.9% indicated that it is in the church and in traditional healer's places respectively that the care is more prompt than in formal health system. However, only 22.8% patients in health facilities felt that they waited a long time before commencing treatment.Conclusion: Sickle cell control in Kisangani should focus on raising awareness, information and education of the population, sickle cell anemia patients and their families. In addition, centers for the comprehensive management of sickle cell disease supported by the state should be developed. Similarly, research on medicinal plants used by healers is necessary

Suivi médical et scolarité de l'enfant drépanocytaire au Gabon

Introduction. La drépanocytose est la première affection génétique. sa chronicité et la sévérité des crises nécessitent un suivi médical et social pour une intégration optimale des jeunes patients. Le but de cette enquête était d'évaluer le suivi médical des patients drépanocytaires du Gabon, et de coter leur scolarité. Méthodologie. Il s'agit d'une étude transversale descriptive, menée de décembre à 2015 à décembre 2016, incluant des drépanocytaires de Libreville et Lambaréné. Les variables analysées étaient les données sociodémographiques de l'enfant et de la famille, les éléments du traitement intercritique, la prise de pharmacopée traditionnelle, le parcours scolaire. Résultats. Nous avons inclus 217 filles et garçons de 7,8 ± 3,4 ans, le sex ratio était 1,1 (NS), provenant de familles dont la mère avait une médiane d'âge de 35 ans, un niveau scolaire universitaire dans 46,6%, le nombre moyen d'enfants à domicile était 3,7 ± 1,9. Le chef de famille était cadre supérieur dans 2,8% des cas. 71% des enfants avaient un suivi médical régulier ; 89,9% prenaient régulièrement de l'acide folique et 26,7% avaient recours à un traitement traditionnel régulier. Parmi les 114 enfants drépanocytaires d'âge scolaire, la scolarité était bonne ou excellente dans 70% des cas et en retard dans 30% des cas. Conclusion. Il y a une grande disparité dans la prise en charge de l'enfant drépanocytaire au Gabon, d'où la nécessité d'une harmonisation En effet, environ un tiers des enfants drépanocytaires gabonais ont un retard de scolarité