Le dépistage néonatal de la drépanocytose en France

Bardakdjian‐Michau, Josiane

doi:10.1016/s0929-693x(08)71894-3

Cited by 14 publications

(6 citation statements)

References 2 publications

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“…Most epidemiological assessment relies on the newborn screening program implemented in France in 1995 and systematized throughout the country in 2000. Based on this program, it is estimated that SCD affects 1 in 714 births [ 10 ], with most occurring in overseas departments and the Paris area. Newborn screening (targeted for SCD in mainland France) involves approximately 490 children per year.…”

Section: Introductionmentioning

confidence: 99%

Epidemiology and disease burden of sickle cell disease in France: A descriptive study based on a French nationwide claim database

Leleu¹,

Arlet

Habibi

et al. 2021

PLoS ONE

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Context Sickle cell disease (SCD) is a severe hematological disorder. The most common acute complication of SCD is vaso-occlusive crisis (VOC), but SCD is a systemic disease potentially involving all organs. SCD prevalence estimates rely mostly on extrapolations from incidence-based newborn screening programs, although recent improvements in survival may have led to an increase in prevalence, and immigration could account for a substantial number of prevalent patients in Europe. The primary objective of this study was to estimate SCD prevalence in France. Methods A cross-sectional observational study was conducted using a representative sample of national health insurance data. SCD patients followed up in France between 2006 and 2011 were captured through hydroxyurea reimbursement and with the International Classification of Diseases (ICD-10) SCD specific code D570.1.2, excluding code D573 (which corresponds to sickle cell trait (SCT)). Nevertheless, we assumed that ICD-10 diagnosis coding for inpatient stays could be imperfect, with the possibility of SCT being miscoded as SCD. Therefore, prevalence was analyzed in two groups of patients [with at least one (G1) or two (G2) inpatient stay] based on the number of SCD-related inpatient stays in the six-year study period, assuming that SCT patients are rarely rehospitalized compared to SCD. The prevalence of SCD in the sample, which was considered to be representative of the French population, was then extrapolated to the general population. The rate of vaso-occlusive crisis (VOC) events was estimated based on hospitalizations, emergencies, opioid reimbursements, transfusions, and sick leave. Results Based on the number of patients identified for G1 and G2, the 2016 French prevalence was estimated to be between 48.6 per 100,000 (G1) or 32,400 patients and 29.7 per 100,000 (G2) or 19,800 patients. An average of 1.51 VOC events per year were identified, with an increase frequency of 15 to 24 years of age. The average annual number of hospitalizations was between 0.70 (G1) and 1.11 (G2) per patient. Intensive care was observed in 7.6% of VOC-related hospitalizations. Fewer than 34% of SCD patients in our sample received hydroxyurea at any point in their follow-up. The annual average cost of SCD care is €5,528.70 (G1) to €6,643.80 (G2), with most costs arising from hospitalization and lab testing. Conclusion Our study estimates SCD prevalence in France at between 19,800 and 32,400 patients in 2016, higher than previously published. This study highlights the significant disease burden associated with vaso-occlusive events.

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Section: Introductionmentioning

confidence: 99%

Epidemiology and disease burden of sickle cell disease in France: A descriptive study based on a French nationwide claim database

Leleu¹,

Arlet

Habibi

et al. 2021

PLoS ONE

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“…SCD has become the most common genetic disease in this country, with an overall birth prevalence of 1/2065 in 2007,2 or 1/2415 in mainland France, ahead of phenylketonuria (1/10 862), congenital hypothyroidism (1/3132), congenital adrenal hyperplasia (1/19 008) and cystic fibrosis (1/5014) for the same reference period 3…”

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confidence: 99%

Neonatal screening for sickle cell disease in France

et al. 2008

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Although screening for SCD at birth in France is not universal, it appears that missed babies are relatively infrequent. Despite obvious sociological problems inherent to the at-risk population, the follow-up of SCD babies is rather successful. Due to the birth prevalence of SCD in France, especially in comparison with other common genetic diseases, screening all newborns regardless of ethnic origin is an issue that is being addressed.

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“…Sickle cell anemia is an inherited disorder of the hemoglobin structure characterized by the replacement of glutamic acid by valine in position 6 of the globin beta chain [1]. This mutation characterizes hemoglobin S (HbS) whose essential characteristic is gelation, responsible for sickle cell disease [1]. Sickle cell homozygous SS and composite forms (SC, S-Beta thalassemia, SD, SO Arab...) constitute major sickle cell syndromes (MSS).…”

Section: Introductionmentioning

confidence: 99%

Hematological Malignancies in Sickle Cell Disease Patients: Report of Four Cases in Togo and Literature Review

Essohana,

M. Koffi,

Hèzouwè

et al. 2024

OJBD

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Background: Hemopathies were rarely observed in major sickle cell disease patients some thirty years ago, probably due to the high mortality rate among the latter as a result of progressive complications. Thanks to advances in the management of sickle cell disease, patients' life expectancy has increased considerably, exposing them more frequently to neoplasia, including hematological malignancies. The increased risk of leukemogenesis is multifactorial and linked to the pathophysiological mechanisms of the clinical manifestations of sickle cell disease. Study Setting: The clinical haematology department of campus teaching hospital and the paediatric onco-haematology unit of Sylvanus Olympio teaching hospital in Lomé were used as study settings. Observations: Four hematologic malignancies were collected in a cohort of 5847 major sickle cell syndromes. The median age of the patients was 31.25 years (extremes: 14 and 58 years) and they were predominantly female (sex ratio M/F = 0.25). Two were on background therapy with hydroxyurea. Among the four patients, there were two cases of acute lymphocytic leukemia, including ALL3 in a 58-year-old SS woman and T-ALL2 in a 12-year-old SC. Then, a case of lymphocytic lymphoma in a 20-year-old SS man was reported and finally a case of chronic myelocytic leukemia in a 33-year-old woman of Sβ+ thalassaemia phenotype. Conclusion: To further report this coexistence, it is therefore essential to systematically consider hematological malignancies during major sickle cell syndromes even if there are similarities in the symptomatology of these two serious pathological situations.

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Le dépistage néonatal de la drépanocytose en France

Cited by 14 publications

References 2 publications

Epidemiology and disease burden of sickle cell disease in France: A descriptive study based on a French nationwide claim database

Epidemiology and disease burden of sickle cell disease in France: A descriptive study based on a French nationwide claim database

Neonatal screening for sickle cell disease in France

Hematological Malignancies in Sickle Cell Disease Patients: Report of Four Cases in Togo and Literature Review

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