Pathophysiology and management of inherited bone marrow failure syndromes

Akiko Shimamura, Blanche P. Alter

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)101-122
Number of pages22
JournalBlood Reviews
Issue number3
StatePublished - May 2010
Externally publishedYes


  • Aplastic anemia
  • Diamond-Blackfan anemia
  • Dyskeratosis congenita
  • Fanconi
  • Inherited bone marrow failure syndromes
  • Shwachman-Diamond syndrome

ASJC Scopus subject areas

  • Hematology
  • Oncology


Dive into the research topics of 'Pathophysiology and management of inherited bone marrow failure syndromes'. Together they form a unique fingerprint.

Cite this