The European Diamond-Blackfan Anemia Consortium

The main goal of the Consortium is to broaden the knowledge of the etiopathogenesis of the disease, identify new genes responsible for the occurrence of DBA, detect the correlation between genotype and phenotype, and improve diagnostic methods. The consortium is developing recommendations for the diagnosis and treatment of the disease, its complications, and patient monitoring.

As part of the national tasks, an IT system was created that enables:

1) registration and presentation of national hematooncology centers,

2) central registration of all BDA patients, including data on their phenotype, genotype and the current course of the disease and treatment,

3) creating an online DBA knowledge portal for doctors and patients.

The project also aims to evaluate the effectiveness and usefulness of new molecular diagnostic methods. Identification of new DNA mutations responsible for DBA, linking them with the phenotypic picture of the disease and response to treatment. Translating genetic data into patient treatment prospects and prognosis.