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Sideroblastic anemia

Orpha number ORPHA1047
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Autosomal recessive
X-linked recessive
X-linked dominant
Mitochondrial inheritance
Not applicable
Age of onset All ages
ICD-10
  • D64.0
  • D64.1
  • D64.2
  • D64.3
ICD-O -
OMIM -
UMLS
  • C0002896
MeSH
  • D000756
MedDRA
  • 10040661

Summary

Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias (see these terms). The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias (see these terms).


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