Service d'Hématologie Pédiatrique, Hôpital d'Enfants de la Timone, Paris, France.
Haematologica. 2010 May;95(5):724-9. doi: 10.3324/haematol.2009.018051. Epub 2009 Dec 8.
beta-thalassemia is a rare disease in France, encountered mainly in patients originating from Italy and North Africa. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 2005. Epidemiological and clinical data have been collected on living patients with beta-thalassemia major or intermedia, including those who underwent hematopoietic stem cell transplantation.
A standardized questionnaire was sent to clinicians throughout the national professional networks involved in the management of thalassemic patients and data were updated every 18 months. A cross-sectional study was performed in February 2009.
Data on 378 patients (267 with thalassemia major) with a median age of 20 were recorded. Hematopoietic stem cell transplantation was performed in 52 patients. Stature, rates of parenthood, splenectomy, and cholecystectomy were no different between non-transplanted thalassemia major and thalassemia intermedia patients, after adjustment for age. Among the 215 non-transplanted thalassemia major patients, the median serum ferritin level was 1240 ng/mL and the rates of iron-related complications were 10%, 6%, 10% and 48% for cardiac failure, diabetes, hypothyroidism, and hypogonadism, respectively. From 2005 to 2008, a dramatic switch in chelation treatment, from deferoxamine to deferasirox, was observed.
The rates of complications of iron overload in French thalassemia major patients appeared similar to those reported in other developed countries in which this condition is not endemic. There were no significant differences in height and parenthood rates between patients with the major and the intermedia forms of the disease, underlining the progress in clinical care. Future developments will focus on mortality and morbidity under oral chelation treatment.
β-地中海贫血在法国较为罕见，主要见于意大利和北非移民后裔。在法国最近的罕见病计划中，自 2005 年以来，已经开发了一个用于地中海贫血的国家登记系统。该系统收集了患有重型或中间型β-地中海贫血的活产患者的流行病学和临床数据，包括接受造血干细胞移植的患者。
通过全国性专业网络向参与地中海贫血患者管理的临床医生发送标准化问卷，并每 18 个月更新一次数据。2009 年 2 月进行了横断面研究。
记录了 378 名患者（267 名重型地中海贫血患者）的数据，中位年龄为 20 岁。52 名患者接受了造血干细胞移植。调整年龄后，未接受移植的重型地中海贫血和中间型地中海贫血患者的身高、生育能力、脾切除术和胆囊切除术率无差异。在 215 名未接受移植的重型地中海贫血患者中，中位血清铁蛋白水平为 1240ng/ml，铁相关并发症的发生率分别为心力衰竭 10%、糖尿病 6%、甲状腺功能减退 10%和性腺功能减退 48%。2005 年至 2008 年，螯合治疗从去铁胺急剧转变为地拉罗司。
法国重型地中海贫血患者铁过载并发症的发生率与其他发达国家相似，这些国家铁过载并非地方性疾病。重型和中间型地中海贫血患者的身高和生育能力率无显著差异，突出了临床护理的进展。未来的发展将侧重于口服螯合治疗下的死亡率和发病率。
