Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis

Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004.


Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder characterized by erythroid failure, congenital anomalies, and a predisposition to cancer. Faulty ribosome biogenesis, resulting in proapoptotic erythropoiesis leading to erythroid failure, is hypothesized to be the underlying defect. The genes identified to date that are mutated in DBA all encode ribosomal proteins associated with either the small or large subunit and in these cases haploinsufficiency gives rise to the disease. Extraordinarily robust laboratory and clinical investigations have recently led to demonstrable improvements in clinical care for patients with DBA.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adrenal Cortex Hormones / therapeutic use
  • Adrenal Cortex Hormones / toxicity
  • Anemia, Diamond-Blackfan* / diagnosis
  • Anemia, Diamond-Blackfan* / drug therapy
  • Anemia, Diamond-Blackfan* / physiopathology
  • Anemia, Diamond-Blackfan* / therapy
  • Disease Susceptibility
  • Erythrocyte Transfusion
  • Humans
  • Neoplasms / etiology
  • Ribosomes / pathology
  • Stem Cell Transplantation / adverse effects
  • Stem Cell Transplantation / mortality


  • Adrenal Cortex Hormones