Official websites use. Share sensitive information only on official, secure websites. E-mail : atherine. In the setting of the recent French plan for rare diseases, a National Registry for thalassemia has been developed since 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 Data on patients 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. From to , 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. Until recently, no national data on mortality, morbidity, or quality of care were available.
An epidemiological survey was conducted in and recorded patients with thalassemia major TM or intermedia TI , of whom most originated from North Africa or Italy. Reference centers were created, dedicated to the clinical management of rare diseases, and assigned several missions such as ameliorating global clinical care for patients, improving professional practices and collecting epidemiological data.
