@article{Isabelle Thuret_Corinne Pondarré_Anderson Loundou_Dominique Steschenko_Robert Girot_Dora Bachir_Christian Rose_Vincent Barlogis_Jean Donadieu_Mariane de Montalembert_Isabelle Hagege_Brigitte Pegourie_Claire Berger_Marguerite Micheau_Françoise Bernaudin_Thierry Leblanc_Laurence Lutz_Frédéric Galactéros_Marie-Claude Siméoni_Catherine Badens_2010, place={Pavia, Italy}, title={Complications and treatment of patients with β-thalassemia in France: results of the National Registry}, volume={95}, url={https://haematologica.org/article/view/5583}, DOI={10.3324/haematol.2009.018051}, abstractNote={<strong>Background</strong> β-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 β-thalassemia major or intermedia, including those who underwent hematopoietic stem cell transplantation.<strong>Design and Methods</strong> 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.<strong>Results</strong> 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.<strong>Conclusions</strong&gt; 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.}, number={5}, journal={Haematologica}, author={Isabelle Thuret and Corinne Pondarré and Anderson Loundou and Dominique Steschenko and Robert Girot and Dora Bachir and Christian Rose and Vincent Barlogis and Jean Donadieu and Mariane de Montalembert and Isabelle Hagege and Brigitte Pegourie and Claire Berger and Marguerite Micheau and Françoise Bernaudin and Thierry Leblanc and Laurence Lutz and Frédéric Galactéros and Marie-Claude Siméoni and Catherine Badens}, year={2010}, month={May}, pages={724-729} }