Register of thalassaemia patients in France (Qualified Register) FRESH-PEF248-en Catherine BADENS Register of thalassaemia patients in France (Qualified Register) FRESH-PEF248-en 248 FRESH-PEF248 Catherine BADENS ASSISTANCE PUBLIQUE HOPITAUX DE MARSEILLE (AP-HM) Epidemiology France Portal (PEF) INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) null Catherine;BADENS CohortClinical research Hematology Internal medicine Paediatrics Thalassaemias Biological determinants: Genetic predisposition Biological determinants -Obtain national epidemiological data on the disease, particularly its morbidity and, over the longer term, its mortality, which reflect the quality of overall patient care -Monitor treatment trends over time - especially the increasing use of orally administered active chelators and the spread of new techniques for evaluating tissue overload by heart and liver MRIs. -Compare conventional treatment results combining transfusions and iron chelation with those obtained from hematopoietic stem cell transplants. -Conduct more basic research projects null France Individuals Patients population Male Female Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Beta-thalassemias (TM) major and intermediate (TI), including HbE/thalassemia composite hereterozygosity and thalassemia patients who have had a HSC transplant. Diagnosis of a severe form of beta-thalassemia is formally established on the basis of data from a biochemical study of hemoglobin with no real differential diagnosis. Distinguishing between thalassemia major and intermediate requires the combination of 3 consensual criteria: • for TM: Severe anemia indicating the setup of a systematic transfusion routine (at least 8 transfusions/year) before the age of 4. • for TI: Moderate or medium intensity anemia that have no or only occasional need for transfusion. The date and circumstances of the diagnosis are asked for upon inclusion and the characteristics of the transfusion treatment upon inclusion and when each follow-up sheet is completed. Identification of the beta-thalassemia mutations or type of beta 0 or beta + mutation are available in most cases, allowing for a complementary approach - even if the TM or TI diagnosis retains a clinical definition. HbE/thalassemia composite hereterozygosity is of biological definition (biochemical or molecular) and can lead to an intermediate or major form of thalassemia: as a result they are subject to the same classification according to the same clinical criteria (age at diagnosis and transfusion needs). Clinical data Biological data Health event/morbidity Health event/mortality Others Other [500-1000[ individuals Converting or copying information into a structured record Observational Study Observational Study Morbidity registry 287 (2008)479 (2010)515 (2012) Unknown Restricted access Data access procedure for external teams: a request must be submitted to the registry manager (C. Badens) and to the 2 coordinators of the Thalassemia reference center (I. Thuret and C. Pondarré). Access on specific project only