title: Complications and treatment of patients with β-thalassemia in France: results of the National Registry.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Service d'Hématologie Pédiatrique, Hôpital d'Enfants de la Timone, Paris, France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Thuret
authors.forename: Corinne
authors.initials: C
authors.lastname: Pondarré
authors.forename: Anderson
authors.initials: A
authors.lastname: Loundou
authors.forename: Dominique
authors.initials: D
authors.lastname: Steschenko
authors.forename: Robert
authors.initials: R
authors.lastname: Girot
authors.forename: Dora
authors.initials: D
authors.lastname: Bachir
authors.forename: Christian
authors.initials: C
authors.lastname: Rose
authors.forename: Vincent
authors.initials: V
authors.lastname: Barlogis
authors.forename: Jean
authors.initials: J
authors.lastname: Donadieu
authors.forename: Mariane
authors.initials: M
authors.lastname: de Montalembert
authors.forename: Isabelle
authors.initials: I
authors.lastname: Hagege
authors.forename: Brigitte
authors.initials: B
authors.lastname: Pegourie
authors.forename: Claire
authors.initials: C
authors.lastname: Berger
authors.forename: Marguerite
authors.initials: M
authors.lastname: Micheau
authors.forename: Françoise
authors.initials: F
authors.lastname: Bernaudin
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
authors.forename: Laurence
authors.initials: L
authors.lastname: Lutz
authors.forename: Frédéric
authors.initials: F
authors.lastname: Galactéros
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Siméoni
authors.forename: Catherine
authors.initials: C
authors.lastname: Badens
mesh_terms: D000293:Adolescent; D000328:Adult; D002318:Cardiovascular Diseases / Q000150:complications / Q000453:epidemiology / Q000628:therapy; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D048909:Diabetes Complications / Q000150:complications / Q000453:epidemiology / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D005602:France / Q000453:epidemiology; D006801:Humans; D007223:Infant; D019190:Iron Overload / Q000150:complications / Q000453:epidemiology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D012042:Registries; D016896:Treatment Outcome; D055815:Young Adult; D017086:beta-Thalassemia / Q000150:complications* / Q000453:epidemiology / Q000628:therapy*