Table_1_Prevalence and cost of sickle cell disease in France: real-world analysis using data from the Echantillon Généraliste des Bénéficiaires.DOCX

Sickle cell disease (SCD) is a genetic disorder of the hemoglobin resulting in chronic anemia, hemolysis, and vaso-occlusions. Its treatment mostly relies on hydroxycarbamide, transfusions, and stem cell transplantation. This study aimed at describing the epidemiology and management of SCD in adolescent and adult patients in France. This was a retrospective study performed among SCD patients aged ≥12 years between 2016 and 2018 and controls. SCD patients were matched on a 1:3 ratio with a group of individuals with no diagnosis of SCD, referred as control group. The matching of SCD patients and controls was a direct matching based on age, sex, CMU-c status (which corresponds to free-of-charge complementary coverage for people with low resources) and geographical region of residence. SCD patients and their matched controls were followed-up for the same amount of time by adjusting controls’ follow-up period to that of the associated patients. This study used claims data from the French representative 1/97th sample of health data system. The main outcomes were the patients’ characteristics and treatments received, healthcare consumptions and related costs among SCD cases and controls. Between 2016 and 2018, 151 patients with ≥6 months of follow-up were identified out of the total population of 732,164 individuals. SCD prevalence extrapolated to the entire population [95% CI] was 19,502 [19,230, 19,778] in 2018. The median (Q1–Q3) age at inclusion date was 37.0 (25.0–48.0) years, with 69.5% of patients being female. The mean (SD) reimbursed cost over follow-up was €24,310 (89,167), mostly represented by hospitalization costs accounting for €21,156 (86,402). A switch in SCD management was observed with age, as younger patients presented more frequent hospitalizations and acute procedures, while older ones had more frequent medical visits and paramedical care. Mean (SD) annual costs were €25,680 (91,843) and vs. €3,227 (23,372) for patients and controls, respectively (p < 0.001), representing an extra cost of almost €150 million over the entire SCD population. This study highlighted the important costs related to SCD and the related medical need with treatment alternatives, which could be filled by the emergence of new therapies.

镰状细胞病（Sickle Cell Disease, SCD）是一种累及血红蛋白的遗传性疾病，可引发慢性贫血、溶血及血管闭塞事件。其临床治疗主要依赖羟基脲（hydroxycarbamide）、输血治疗与造血干细胞移植。本研究旨在描述法国青少年及成年镰状细胞病患者的流行病学特征与诊疗现状。

本研究为回顾性研究，纳入2016至2018年间年龄≥12岁的镰状细胞病患者与对照人群。镰状细胞病患者以1:3的比例与无镰状细胞病诊断的个体组成的对照组进行匹配，匹配因素包括年龄、性别、CMU-c参保状态（即针对低收入人群的免费补充医保）以及居住地区。通过将对照人群的随访时长调整至匹配患者的随访时长，确保镰状细胞病患者与对照人群的随访时长一致。本研究使用法国代表性1/97健康数据系统的理赔数据开展分析。

本研究的主要结局指标包括：镰状细胞病病例与对照人群的患者特征、接受的治疗方案、医疗服务消耗及相关费用。2016至2018年间，在732164名总研究对象中，共筛选出151名随访时长≥6个月的镰状细胞病患者。经外推至全人群后，2018年镰状细胞病的患病率为19502例[95%置信区间：19230~19778]。入组时患者的年龄中位数（四分位数间距）为37.0岁（25.0~48.0岁），其中女性占比69.5%。随访期间的平均报销费用（标准差）为24310欧元（89167欧元），其中住院费用占比最高，达21156欧元（86402欧元）。

研究观察到镰状细胞病的诊疗模式随年龄发生变化：年轻患者更常出现住院治疗与急诊操作，而老年患者则更频繁地接受门诊就诊与辅助医疗护理。镰状细胞病患者的年均报销费用（标准差）为25680欧元（91843欧元），显著高于对照人群的3227欧元（23372欧元）（p<0.001），据此推算全镰状细胞病人群的额外医疗成本近1.5亿欧元。本研究凸显了镰状细胞病相关的高额医疗成本与诊疗需求，而新兴疗法有望填补现有治疗方案的不足。