Pathophysiology and management of inherited bone marrow failure syndromes

Blood Rev. 2010 May;24(3):101-22. doi: 10.1016/j.blre.2010.03.002. Epub 2010 Apr 24.

Abstract

The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The clinical phenotypes are highly variable and much broader than previously recognized. The medical management of the inherited marrow failure syndromes differs from that of acquired aplastic anemia or malignancies arising in the general population. Diagnostic workup, molecular pathogenesis, and clinical treatment are reviewed.

Publication types

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

MeSH terms

  • Bone Marrow Diseases* / diagnosis
  • Bone Marrow Diseases* / genetics
  • Bone Marrow Diseases* / metabolism
  • Bone Marrow Diseases* / physiopathology
  • Bone Marrow Diseases* / therapy
  • Genetic Diseases, Inborn / genetics
  • Genetic Diseases, Inborn / metabolism
  • Genetic Diseases, Inborn / physiopathology
  • Genetic Diseases, Inborn / therapy
  • Humans
  • Syndrome