Orphanet: Autosomal recessive sideroblastic anemia

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Autosomal recessive sideroblastic anemia

Disease definition

Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.


Classification level: Disorder
  • Synonym(s):
    • ARSA
    • Congenital sideroblastic anemia
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: D64.0
  • OMIM: 182170  205950
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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