International Journal of Hematology

, Volume 93, Issue 2, pp 144–149 | Cite as

Ribosome defects in disorders of erythropoiesis

  • Anupama Narla
  • Slater N. Hurst
  • Benjamin L. EbertEmail author
Progress in Hematology Seven wonders of erythropoiesis


Over the past decade, genetic lesions that cause ribosome dysfunction have been identified in both congenital and acquired human disorders. These discoveries have established a new category of disorders, known as ribosomopathies, in which the primary pathophysiology is related to impaired ribosome function. The protoptypical disorders are Diamond–Blackfan anemia, a congenital bone marrow failure syndrome, and the 5q- syndrome, a subtype of myelodysplastic syndrome. In both of these disorders, impaired ribosome function causes a severe macrocytic anemia. In this review, we will discuss the evidence that defects in ribosomal biogenesis cause the hematologic phenotype of Diamond–Blackfan anemia and the 5q- syndrome. We will also explore the potential mechanisms by which a ribosomal defect, which would be expected to have widespread consequences, may lead to specific defects in erythropoiesis.


Myelodysplastic syndrome Diamond–Blackfan anemia p53 


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Copyright information

© The Japanese Society of Hematology 2011

Authors and Affiliations

  • Anupama Narla
    • 1
    • 2
    • 3
  • Slater N. Hurst
    • 2
  • Benjamin L. Ebert
    • 1
    • 2
    • 4
  1. 1.Dana-Farber Cancer InstituteHarvard Medical SchoolBostonUSA
  2. 2.Department of Medicine, Brigham and Women’s HospitalHarvard Medical SchoolBostonUSA
  3. 3.Department of MedicineChildren’s Hospital BostonBostonUSA
  4. 4.Harvard Stem Cell InstituteCambridgeUSA

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