Rare Anaemia Disorders (RADs) is a group of rare diseases characterized for presenting anaemia as the main clinical manifestation. Different medical entities classified as RADs by ORPHA classification are most of them chronic life threating disorders with many unmet needs for their proper clinical management creating an impact on European health systems. RADs present diagnostic challenges and their appropriate management requires from specialised multidisciplinary teams in Centers of expertise.
Although there are some examples of well-established national registries on RADs in EU, the lack of recommendations for Rare disease registries implementation and the lack of standards for interoperability has led to the fragmentation or unavailability of data on prevalence, survival, main clinical manifestations or treatments in most of the European countries.
Patients must meet all of the following criteria to be included in the RADeep Registry
Age from 0-100, both female and male
Diagnosed as RADs (SCD, THAL, PKD, and other RADs THAL according to ORPHANET classification)
Able and willing to provide written informed consent (patient or legal representative for minors)
Patient or legal representative for minors unwilling or unable to give consent
Patients diagnosed with SCD or THAL (alpha-thalassaemia and beta-thalassaemia) traits or trait conditions for other recessive RADs
Hospital Universitari Vall d'Hebron Research Institute
Lead sponsor
Erasme University Hospital
Collaborator
Cyprus Institute of Neurology and Genetics
Collaborator
EuroBloodNet Association
Collaborator