ERA-Net E-Rare

Diamond-Blackfan anemia (DBA) is a rare inherited genetic disorder, typically diagnosed in the first year of life, which affects cells in the bone marrow and their capacity to produce red blood cells. The result is severe anemia. While some patients respond well to corticosteroid treatment, many are blood transfusion dependent and still others require bone marrow transplants to survive.

To date, approximately 70% of all DBA patients have been found to carry mutations in ribosomal protein genes. However the mechanisms underlying why these mutations so specifically result in red blood cell loss remain largely unknown. Our consortium, EuroDBA, brings together researchers from both clinical and biological backgrounds. With our creation of a European-wide DBA patient registry, we aim to discover the remaining 30% of unknown gene mutations linked to DBA, and to determine how these novel and previously known mutations affect cells in the bone marrow in a way that ultimately leads to anemia.