How I treat Diamond-Blackfan anemia.
Diamond-Blackfan anemia (DBA) is characterized by red cell failure, the presence of congenital anomalies, and cancer predisposition. In addition to being an inherited bone marrow failure syndrome, DBA is also categorized as a ribosomopathy as, in more than 50% of cases, the syndrome appears to result from haploinsufficiency of either a small or large subunit-associated ribosomal protein. Nonetheless, the exact mechanism by which haploinsufficiency results in erythroid failure, as well as the other clinical manifestations, remains uncertain. New knowledge regarding genetic and molecular mechanisms combined with robust clinical data from several international patient registries has provided important insights into the diagnosis of DBA and may, in the future, provide new treatments as well. Diagnostic criteria have been expanded to include patients with little or no clinical findings. Patient management is therefore centered on accurate diagnosis, appropriate use of transfusions and iron chelation, corticosteroids, hematopoietic stem cell transplantation, and a coordinated multidisciplinary approach to these complex patients.
Vlachos
Adrianna
A
Steven and Alexandra Cohen Children's Medical Center of New York, Albert Einstein College of Medicine, New Hyde Park, NY 11040, USA. avlachos@nshs.edu
Muir
Ellen
E
D000305:Adrenal Cortex Hormones / Q000009:adverse effects / Q000627:therapeutic use; D029503:Anemia, Diamond-Blackfan / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D000529:Complementary Therapies; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000628:therapy; D017707:Erythrocyte Transfusion; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008297:Male; D012075:Remission, Spontaneous; D012269:Ribosomal Proteins / Q000235:genetics
D000305:Adrenal Cortex Hormones; D007502:Iron Chelating Agents; D012269:Ribosomal Proteins