[Myelodysplasia in children and mitochondrial cytopathies]

Pathol Biol (Paris). 1997 Sep;45(7):594-9.
[Article in French]


Sideroblastic anemia associated with vacuolization of haemopoietic precursors can be observed in some constitutional diseases associated with mitochondrial DNA deletion. In this condition, it is the haematological expression of a multi-tissue disorder. Haemopoiesis is polyclonal, without abnormality of nuclear DNA differing from the acquired idiopathic sideroblastic anemias which arise from a clonal transformed stem cell. This model of childhood polyclonal myelodysplasia can be observed in others myelodysplasias associated with constitutional polymalformative syndromes.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Sideroblastic / physiopathology
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Clonal Deletion
  • DNA, Mitochondrial
  • Humans
  • Infant
  • Myelodysplastic Syndromes / classification
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / physiopathology*


  • DNA, Mitochondrial