Diamond-Blackfan anemia

Hematology Am Soc Hematol Educ Program. 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314.


Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome, characterized as a rare congenital bone marrow erythroid hypoplasia (OMIM#105650). Erythroid defect in DBA results in erythroblastopenia in bone marrow as a consequence of maturation blockade between the burst forming unit-erythroid and colony forming unit-erythroid developmental stages, leading to moderate to severe usually macrocytic aregenerative (<20 × 109/L of reticulocytes) anemia. Congenital malformations localized mostly in the cephalic area and in the extremities (thumbs), as well as short stature and cardiac and urogenital tract abnormalities, are a feature of 50% of the DBA-affected patients. A significant increased risk for malignancy has been reported. DBA is due to a defect in the ribosomal RNA (rRNA) maturation as a consequence of a heterozygous mutation in 1 of the 20 ribosomal protein genes. Besides classical DBA, some DBA-like diseases have been identified. The relation between the defect in rRNA maturation and the erythroid defect in DBA has yet to be fully defined. However, recent studies have identified a role for GATA1 either due to a specific defect in its translation or due to its defective regulation by its chaperone HSP70. In addition, excess free heme-induced reactive oxygen species and apoptosis have been implicated in the DBA erythroid phenotype. Current treatment options are either regular transfusions with appropriate iron chelation or treatment with corticosteroids starting at 1 year of age. The only curative treatment for the anemia of DBA to date is bone marrow transplantation. Use of gene therapy as a therapeutic strategy is currently being explored.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Diamond-Blackfan / diagnosis*
  • Anemia, Diamond-Blackfan / genetics
  • Anemia, Diamond-Blackfan / therapy*
  • Bone Marrow / pathology
  • Bone Marrow Transplantation
  • Child, Preschool
  • Disease Management
  • Female
  • Humans
  • Infant
  • Male
  • Mutation
  • Ribosomal Proteins / genetics


  • Ribosomal Proteins