[The transition of adolescents with sickle cell disease: an interdisciplinary exchange]. / La transition des adolescents drépanocytaires, un échange interdisciplinaire.

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.

[François Gros: an intelligent, kind-hearted man who couldn't say no]. / François Gros : un coeur intelligent et bon qui ne savait pas dire non.

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.

Les anémies aiguës et la stratégie transfusionnelle chez les drépanocytaires adultes: Acute anemias transfusion strategy in adult sickle cell patients.

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.

Le globule rouge drépanocytaire : données fonctionnelles: The sickle red blood cell: functional data.

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.

Le globule rouge drépanocytaire. Données génétiques et structurelles: The sickle cell. Genetic and structural data.

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.

Exploration de l'hémolyse associée à la drépanocytose et perspectives thérapeutiques spécifiques: Sickle cell disease hemolysis investigations and targeted therapeutics prospects.

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.

[A day in the pediatric day hospital: towards a successful transition]. / Une journée en hôpital de jour pédiatrique : vers une transition réussie.

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.

[Patient partnership: sharing experience in sickle cell vaso-occlusive crisis]. / Partenariat patient : partage d'expérience dans le cas d'une crise vaso-occlusive drépanocytaire.

The patient partnership is a new approach in which the patient, through his knowledge acquired from his experience with the disease, is a stakeholder in decisions about care, the organization of the health system and choices in terms of health policy. A team from the Blois hospital (41) was able to share the experience of a patient partnership during the analysis of a complex medical situation with a young man with sickle cell disease in a vaso-occlusive crisis. She reports here this new and enriching experience.

[Lung manifestations of sickle-cell disease]. / Manifestations respiratoires de la drépanocytose.

Sickle-cell disease is an autosomal recessive genetic disorder of hemoglobin that causes systemic damage. Hypoxia is the main actor of sickle-cell disease. It initiates acutely the pathogenic cascade leading to tissue damages that in turn induce chronic hypoxia. Lung lesions represent the major risk of morbidity and mortality. Management of sickle-cell disease requires a tight collaboration between hematologists, intensivists and chest physicians. Recurrent episodes of thrombosis and hemolysis characterize the disease. New therapeutic protocols, associating hydroxyurea, transfusion program and stem cell transplantation in severe cases allow a prolonged survival until the fifth decade. However, recurrent pain, crisis, frequent hospital admissions due to infection, anemia or acute chest syndrome and chronic complications leading to organ deficiencies degrade the patients' quality of life. In low-income countries where the majority of sickle-cell patients are living, the disease is still associated with a high mortality in childhood. This paper focuses on acute chest syndrome and chronic lung manifestations.

[Splenic dysfunction in sickle cell disease: An update]. / Dysfonction splénique au cours de la drépanocytose : mise au point.

The spleen filters blood cells and contributes to the immune defense. The red pulp clears the blood from altered red blood cells via its unique microcirculatory network ; while the white pulp is a secondary lymphoid organ, directly connected to the bloodstream, whose specificity is the defense against encapsulated bacteria through the production of "natural" IgM in the marginal zone. Various health conditions can cause acquired impairment of the splenic function (or hyposplenism) directly and/or through therapeutic splenectomy. Hypo/asplenia is complicated by an increased susceptibility to encapsulated germ infections, but an increased risk of thrombosis and pulmonary hypertension has also been reported after surgical splenectomy. Homozygous sickle cell disease is the most common disease associated with functional asplenia. The latter appears early in childhood likely through repeated ischemic alterations caused by the sickling of red blood cells. In addition, specific complications such as hypersplenism and acute splenic sequestration can occur and may be life-threatening. We provide here an update on the role and physiology of the spleen, which will allow a better understanding of the pathophysiology of spleen damage and its consequences in sickle cell disease.

Dépistage précoce de la drépanocytose: connaissances et attitudes de femmes enceintes et d'agents de la santé au Burkina Faso / Early screening of sickle cell disease: knowledge and behaviors of pregnant women and health workers in Burkina Faso

Objectif : 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. Matériels & Méthodes : 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. Résultats : 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. Conclusion: 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

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. Materials and 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. Conclusion: 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.

[Early Screening Of Sickle Cell Disease: Knowledge And Behaviors Of Pregnant Women And Health Workers In Burkina Faso]. / Depistage Precoce De La Drepanocytose : Connaissances Et Attitudes De Femmes Enceintes Et d'Agents De La Sante Au Burkina Faso.

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. MATERIALS AND 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. CONCLUSION: 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.

OBJECTIF: 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. MATÉRIELS & MÉTHODES: 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. RÉSULTATS: 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. CONCLUSION: 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.

[Acute chest syndrome in adult sickle cell patients]. / Syndrome thoracique aigu chez les patients drépanocytaires adultes.

Sickle cell disease is a frequent genetic condition, due to a mutation of the ß-globin gene, leading to the production of an abnormal S hemoglobin and characterized by multiple vaso-occlusive events. The acute chest syndrome is a severe complication associated with a significant disability and mortality. It is defined by the association of one or more clinical respiratory manifestations and a new infiltrate on lung imaging. Its pathophysiology is complex and implies vaso-occlusive phenomena (pulmonary vascular thrombosis, fat embolism), infection, and alveolar hypoventilation. S/S or S/ß0-thalassemia genotype, a history of vaso-occlusive crisis or acute chest syndrome, a low F hemoglobin level (<5%), a high steady-state hemoglobin level (> 10 g/dL), or a high steady-state leukocytosis (>10 G/L) are the main risk factors. Febrile chest pain, dyspnea, sometimes cough with expectorations are its main clinical manifestations, and bi-basal crackles are found at auscultation. Inferior alveolar opacities with or without pleural effusions are identified on chest X-ray or CT-scan. Management of the acute chest syndrome should be prompt and implies, besides the recognition of severity signs, a multimodal analgesia, oxygen supplementation, sometimes a parenteral antibiotic treatment and the frequent use of blood transfusions especially in the most severe cases. Prevention is important and includes a regular monitoring of hospitalized patients and the use of incentive spirometry.

[Gallstone complications in sickle cell patients]. / Complications lithiasiques chez les patients drépanocytaires.

Chronic haemolysis exposes patients with sickle cell disease (SCD) to the development of black pigment gallstones, which can trigger biliary complications. In order to avoid these complications, elective cholecystectomy is recommended in France for all SCD patients with detected gallstones. However, all surgeries, and especially abdominal surgeries, entail an increased risk of vaso-occlusive complications in the peri- and post-operative periods, the most dreadful one being the acute chest syndrome. Preoperative transfusion has been shown in several studies to reduce acute postoperative complications, but exposes the patient to definitive alloimmunization, or even delayed post- transfusion haemolysis, justifying a recent trend towards transfusion sparing. The conditions for avoiding transfusion for a simple and frequent surgery such as cholecystectomy are based on a benefit- risk balance, and must be discussed on a case-by-case basis by the SCD specialist. In particular, it seems fully justified to perform prophylactic preoperative transfusion in patients with a history of recent vaso-occlusive crisis or acute chest syndrome (within 6 months preoperatively), and those operated on in an emergency setting, who are particularly at risk of postoperative events.

[Sexuality assessment of homozygous adult sickle cell patients with a history of priapism in Senegal]. / Évaluation de la sexualité des drépanocytaires adultes homozygotes ayant des antécédents de priapisme au Sénégal.

OBJECTIVES: The objective of this study was to evaluate the sexuality of SS sickle cell patients with a history of priapism. METHODS: This was a case-control study of adult SS sickle cell patients. The occurrence of priapism as well as the nature of the priapism had been investigated. The patients were subdivided into three groups: Group 1 (no priapism), Group 2 (intermittent priapism) and Group 3 (acute priapism). The patients' sexuality was studied using the IIEF-15 questionnaire. RESULTS: We interviewed 191 SS sickle cell patients. The mean age was 27.1±7.1 years. Priapism was observed in 43.5 %. Only 77 patients were eligible for the IIEF15 questionnaire. Groups 1 and 2 performed significantly better than group 3 on erectile function (EF) and orgasmic function (OF) scores. There was no significant difference in the EF and OF scores between groups 1 and 2. No significant difference was observed between the three groups for the scores of sexual desire (SD), intercourse satisfaction (IS), and overall satisfaction (OS). The impairment of erectile function in group 2 was related to the age of the first episode of priapism and the last episode. The impairment of erectile function in group 3 was related to the duration of evolution (P<0.05). CONCLUSION: This study shows that priapism is responsible for impaired erectile function in SS adult sickle cell patients. A program to prevent intermittent episodes of priapism should be put in place.

[Sickle cell disease, a genetic haemoglobin disease]. / La drépanocytose, une maladie génétique de l'hémoglobine.

Sickle cell disease is the number one genetic disease in France in terms of the number of children diagnosed each year in the neonatal period. Throughout their lives, people with sickle cell disease are likely to develop acute complications that require urgent treatment. Chronic complications are more common amongst adults than in children.

[Care pathway for the sickle cell child]. / Parcours de soins de l'enfant drépanocytaire.

The management of sickle cell disease, the leading genetic disease in France, has made immense progress in recent years thanks to the creation of reference centres and multidisciplinary expertise. Pediatric mortality has almost disappeared, but the disease is still burdened with significant morbidity. The challenge for the coming years is to reduce this morbidity in order to improve quality of life and prevent chronic diseases, which occur mainly in adults.

[Management of the adult with sickle cell disease]. / Prise en charge de l'adulte drépanocytaire.

Sickle cell disease is a chronic disease with multisystemic complications. Follow-up requires specialised and multidisciplinary care. The consultation allows for the screening of complications.

[Psychology and culture in sickle cell disease]. / Psychologie et culture dans la drépanocytose.

Sickle cell disease is a chronic pathology which can be expressed as early as the first few months of life. There are many psychological repercussions, linked to the effects of the disease itself, to its impact on the patients' relational life and, for some, to exile and cultural differences. Psychological support is useful for both the patient and his or her family, particularly at key moments in the treatment process.