OBJECTIVE: Early detection of sickle cell disease significantly reduces sickle cell mortality, but it is not practiced in Burkina Faso where the disease is responsible for significant early mortality. The objective of the study was to analyze the relationship between this finding and the knowledge and attitudes of pregnant women with hemoglobinopathy and health workers.
METHODS: the study was cross-sectional and conducted in three health districts of Ouagadougou, Burkina Faso, from June 17 to July 31, 2019. Data were collected using a structured individual interview guide.
RESULTS: 200 pregnant women with hemoglobinopathy and 50 active health workers had participated in the study. Most women defined sickle cell disease as a bone disease, did not know its transmission mode or the hemoglobin type of their child (ren); 95,4% had never heard of neonatal screening for sickle cell disease. Health workers had limited knowledge of sickle cell disease (16-87%), and only 30% offered neonatal screening to pregnant women with hemoglobinopathy.
CONCLUSIONS: the awareness of the population and training health workers on sickle cell disease, supported by a policy of good access to screening tests, would improve the prognosis of sickle cell disease in Burkina Faso.
OBJECTIVE: le dépistage précoce, stratégie ayant amélioré la survie des drépanocytaires, n\'est pas pratiquée au Burkina Faso où la maladie est responsable d\'une mortalité précoce importante. L\'objectif de l\'étude était d\'analyser la relation entre ce constat et les connaissances et attitudes de femmes gestantes porteuses d\'une hémoglobinopathie et des agents de santé.
UNASSIGNED: l\'étude était transversale et conduite dans trois districts sanitaires de Ouagadougou au Burkina Faso, du 17 juin au 31 juillet 2019. Les données étaient recueillies à l\'aide d\'un guide d\'entretien individuel structuré.
UNASSIGNED: 200 femmes enceintes porteuses d\'une hémoglobinopathie et 50 agents de santé en activité avaient participé à l\'étude. La majorité des femmes enquêtées définissait la drépanocytose comme une maladie des os, ne connaissaient pas son mode de transmission, ni le type d\'hémoglobine de leur(s) enfant(s) ou n\'avaient jamais entendu parler de dépistage néonatal de la drépanocytose. Les agents de santé avaient pour 16 à 87%, des connaissances limitées sur la drépanocytose, 30% seulement proposaient un dépistage néonatal aux femmes enceintes porteuses d\'une hémoglobinopathie.
CONCLUSIONS: l\'information de la population et la formation des agents de santé sur la drépanocytose, soutenues par l\'accès aux tests de dépistage améliorerait le pronostic de la drépanocytose au Burkina Faso.

BACKGROUND: Sickle cell disease is the most common hemoglobinopathy in the world. Serious in its major form (SS), it exposes the sickle cell subject to osteoarticular complications that can be early and disabling.
OBJECTIVE: The objective of this study was to contribute to a better understanding of the osteoarticular complications of hemoglobinopathy S and C in pediatric settings.
METHODS: It was a retrospective cross-sectional study, conducted over a period of 3 years, from January 1, 2017 to December 31, 2019. Were included, children aged 0 to 15 years with hemoglobin S or C confirmed by electrophoresis and having an osteo-articular complication.
RESULTS: The analysis focused on 42 cases including 24 boys and 18 girls. The median age was 7.5 years. Functional impotence and fever were the main clinical signs observed. Osteomyelitis was the majority diagnosis (59.6%). Hemoglobin electrophoresis found 33.3% SS hemoglobin and 21.4% SC hemoglobin. Staphylococcus aureus was the main germ isolated from the samples. Radiological lesions were multifaceted and dominated by the periosteal reaction. Management based mainly on orthopedic treatment allowed a favorable evolution in 69% of cases. The average length of hospitalization was 23.78 days.
CONCLUSIONS: Osteoarticular complications of hemoglobinopathies S and C are not exceptional. Of chronic and sometimes disabling course, their management requires a preventive approach of primary and secondary type of sickle cell disease.
BACKGROUND: La drépanocytose est l\'hémoglobinopathie la plus fréquente dans le monde. Grave dans sa forme majeure (SS), elle expose le sujet drépanocytaire à des complications ostéo-articulaires qui peuvent être précoces et invalidantes.
OBJECTIVE: L\'objectif de cette étude était de contribuer à une meilleure connaissance des complications ostéo-articulaires des hémoglobinoses S et C en milieu pédiatrique.
UNASSIGNED: Il s\'est agi d\'une étude transversale, descriptive et rétrospective, conduite sur une période de 3 ans, allant du 1er janvier 2017 au 31 décembre 2019. Ont été inclus, les enfants âgés de 0 à 15 ans porteurs d\'une hémoglobine Sou C confirmée par l\'électrophorèse et ayant une complication ostéo-articulaire.
UNASSIGNED: L\'analyse a porté sur 42 cas dont 24 garçons et 18 filles. L\'âge moyen était de 7,5 ans. L\'impotence fonctionnelle et la fièvre étaient les principaux signes cliniques observés. L\'ostéomyélite était le diagnostic majoritaire (59,6%). L\'électrophorèse de l\'hémoglobine retrouvait 33,3% de phénotypes SS et 21,4% phénotypes SC. Le staphylocoque doré a été le principal germe isolé dans les prélèvements. Les lésions radiologiques étaient multiformes et dominées par la réaction périostée. La prise en charge basée principalement sur le traitement orthopédique a permis une évolution favorable dans 69% des cas. La durée moyenne d\'hospitalisation était de 23,78 jours.
CONCLUSIONS: Les complications ostéo-articulaires des hémoglobinoses S et C ne sont pas exceptionnelles. D\'évolution chronique et parfois invalidante, leur prise en charge passe par une approche préventive de type primaire et secondaire de la drépanocytose.

With the rising incidence of sickle cell disease, this chronic pathology is becoming the most common genetic disease in France. Advances in care have led to a marked improvement in life expectancy. Caregivers in pediatric facilities are therefore increasingly confronted with the question of the transition to adulthood of the adolescents they have been following since birth. As nurses working in Robert-Debré\'s transfusion and curative medicine unit, in 2022, adolescents accounted for 57 % of sickle cell patients enrolled in our transfusion exchange program. Adolescence is a period of major change, and the repercussions of the disease are all the more pronounced. This raises the issue of transferring them to the adult sector.

Here I recall some privileged moments in my interactions with François: when he helped me obtain a grant for an NGO; when I participated in the work of COPED; when I returned to hospital medicine, his support for writing and publishing books that give patients a voice.
J’invoque ici quelques moments privilégiés dans mes interactions avec François : pour l’obtention d’une subvention à une ONG ; lors de ma participation aux travaux du COPED ; lors de mon retour à la médecine hospitalière, son soutien pour l’écriture et la publication de livres donnant la parole aux patients.

Sickle Cell Anemia is a disease with a strong vascular tropism. Beyond anemia, the pathophysiological mechanisms responsible for hemolysis, directly affect both acute and chronic vascular damages, thus resulting in a systemic disease. Understanding the different types of hemolysis underline the need for novel specific biomarkers. Targeted therapeutic approaches for these pathophysiological pathways are necessary to improve Sickle Cell patients\' prognosis. Finally, given its complexity, Sickle Cell Disease is often used as a \"proof of concept\" for other pathologies. It seems likely that the rapidly evolving knowledge in this field will also benefit other diseases. © 2023 Société nationale française de médecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Sickle cell disease is syndromic, associating a hemolytic anemia, a vaso-obstructive vascular disease, and an infectious risk linked to the precocity of the splenic function loss. The willingly hyperacute and potentially fatal character of the two last elements of the pathophysiologic syndrome, has, quite rightly, focused the therapeutic researches on them. Great success in those two domains have allowed a very important gain in life expectancy. However, chronic progressive organ dysfunction began to appear in older than 25 years-old patients. It concerns mainly renal, hepatic, cardiac functions and pulmonary arterial pressure and may lead to organ failure and premature death. Since some 25 years, the clinical research demonstrated an association between such complications and intravascular hemolytic rate, and it turned to a causative relationship. This present paper try to summarize the actual knowledge on the structural and genetic aspects of sickle cell anemia hemolysis. © 2023 Société nationale française de médecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Sickle cell anemia is a genetic disorder that affects hemoglobin leading to the production of an abnormal hemoglobin, called HbS. HbS has the property to polymerize under deoxygenated conditions, causing a mechanical distortion of red blood cells; a phenomenon called sickling. These sickle red blood cells are more fragile and rigid, leading to chronic hemolytic anemia and painful vaso-occlusive crises, as well as chronic vascular complications that can affect many organs. The abnormal functional properties of these sickle red blood cells are responsible for a wide range of clinical expression of the disease. HbS polymerization can be influenced by many factors, such as the hydration state of the red blood cells or the affinity of hemoglobin for oxygen. Moreover, the rheological characteristics of red blood cells, including their deformability and aggregation properties, are associated with specific clinical phenotypes. The pro-inflammatory and pro-oxidant state, as well as the repeated polymerization of HbS, accelerate the senescence of sickle red blood cells, promoting the release of microparticles and contributing to vascular dysfunction. Patients\' red blood cells also have molecular characteristics that promote their adhesion to the endothelium and other circulating cells, contributing to the onset of vascular complications. Massive intravascular hemolysis, due to increased erythrocyte fragility, is also responsible for chronic vascular complications. These different alterations are privileged therapeutic targets, leading to the emergence of new specific treatments. © 2023 Société nationale française de médecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Worsening of anemia is very common in sickle cell disease. It is important to investigate specific complications related to sickle cell disease but also other causes of anemia in general. Transfusions or exchange transfusions are major therapeutic options and are frequently used for acute complications of sickle cell disease but also for primary and secondary prevention of some of the chronic complications. The transfusion strategy has been modified since the awareness of post-transfusion hemolysis by taking into account the transfusion risk score. A strong collaboration between the patient\'s expert center, the Blood center and the patient\'s hospitalization unit is required to make decisions. © 2023 Société nationale française de médecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

Medical advances now enable children with chronic illnesses to live better and longer. As a result, the transition from adolescence to adulthood is increasingly being addressed in pediatric wards, with the aim of optimizing continuity of care. This was achieved at the pediatric day hospital at the Centre hospitalier intercommunal de Poissy-Saint-Germain-en-Laye, near Paris.

暂无摘要。