From the Research
Diamond-Blackfan syndrome, also known as Diamond-Blackfan anemia (DBA), is a rare congenital bone marrow failure disorder characterized by a failure to produce red blood cells, resulting from mutations in ribosomal protein genes, and is typically treated with corticosteroids, with hematopoietic stem cell transplantation being the only curative option 1. The syndrome presents in infancy with severe anemia, while other blood cell lines remain normal.
- Patients typically respond to corticosteroids, with prednisone being the first-line therapy at an initial dose of 2 mg/kg/day, which is then tapered to the lowest effective maintenance dose.
- About 80% of patients respond to steroids, but those who don't may require chronic red blood cell transfusions every 3-5 weeks to maintain adequate hemoglobin levels.
- Iron chelation therapy (with medications like deferasirox or deferoxamine) is necessary for transfusion-dependent patients to prevent iron overload, as noted in a study on the management of DBA 2. The syndrome results from mutations in ribosomal protein genes, affecting ribosome biogenesis and protein synthesis, which particularly impacts rapidly dividing red blood cell precursors, as discussed in a review of DBA 3.
- Patients may also have physical abnormalities including short stature, craniofacial abnormalities, and thumb malformations, requiring multidisciplinary care throughout life.
- Hematopoietic stem cell transplantation is the only curative option, typically considered for transfusion-dependent patients who have a matched donor, as recommended by a consensus conference on DBA 4 and further supported by recent guidelines on HSCT for DBA 5.