The inherited bone marrow failure syndromes

Pediatr Clin North Am. 2013 Dec;60(6):1291-310. doi: 10.1016/j.pcl.2013.09.007.


Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsection of IBMFS, including the ribosomopathies, which include ribosome assembly and ribosomal RNA processing. The Fanconi anemia pathway has become interdigitated with the familial breast cancer syndromes. In this article, the diseases that account for most IBMFS diagnoses are analyzed.

Keywords: Bone marrow failure; Cancer susceptibility; DNA repair; Diamond-Blackfan anemia; Dyseratosis congenita; Fanconi anemia; Ribosomopathies; Shwachman-Diamond.

Publication types

  • Review

MeSH terms

  • Anemia, Aplastic
  • Bone Marrow / pathology*
  • Bone Marrow Diseases
  • Bone Marrow Failure Disorders
  • Hemoglobinuria, Paroxysmal / diagnosis
  • Hemoglobinuria, Paroxysmal / genetics*
  • Hemoglobinuria, Paroxysmal / therapy
  • Humans
  • Ribosomes / genetics*

Supplementary concepts

  • Bone Marrow failure syndromes