Introduction
Diamond Blackfan anemia (DBA) syndrome is a rare, clinically, and genetically heterogeneous inherited bone marrow failure syndrome. Because of its rarity, advances in clinical care must extend to settings where the disorder is only infrequently encountered. In 2008 our first clinical consensus was developed to review the criteria for diagnosis and evaluate the available treatment options. Advances in clinically relevant research (including discovery of new DBA-associated genes, advances in iron burden assessment, and new knowledge on the epidemiology of cancers) and disparities in management and surveillance across centers strongly supported the need for a new set of recommendations. The present consensus guidelines were developed to standardize the diagnostic process and management and to improve long-term outcomes for patients with DBA syndrome worldwide. They are not an absolute standard applicable to all clinical scenarios and resources. However, resource limitations should not reduce efforts to deliver the best possible care.
Background
An international panel of 53 representatives from 27 countries, recognized as key opinion leaders in DBA diagnosis and management, was appointed by the leaders of the European DBA (EuroDBA) consortium and the DBA Registry of North America (DBAR). The experts were selected through a multi-year process beginning in 2014 at our first in-person meeting in Freiburg, Germany. The panel, consisted of clinical providers collectively caring for >2500 children, adolescents, and adults with DBA syndrome, including pediatric hematologists and oncologists, pathologists, endocrinologists, geneticists, and experts in transfusion medicine, hematopoietic stem cell transplantation (HSCT), iron management, adult medicine, in addition to researchers in ribosome biology and patient group representatives. At the first meeting in 2014, clinically relevant discussion items were selected. After 3 additional in person meetings between 2015 and 2018 we agreed on the final items and developed a final structure of the consensus manuscript. The manuscript was refined through continued discussion at 5 additional virtual meetings between 2019 and 2023 resulting in this international guideline document.
Accessing the guidelines
The interactive summary allows you to easily access key information from the consensus statement. To access tables referenced in the figure below please click links on the right side. You can also access the full manuscript package.
Read the published version of the article in Lancet Haematology. Note that the structure and table numbering in the published manuscript is different. Please feel free to provide feedback on how to make this resource even more valuable.
