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Severe congenital hypochromic anemia with ringed sideroblasts

Disease definition

STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia (see this term) except for increased erythrocyte protoporphyrin levels.


Classification level: Disorder
  • Synonym(s):
    • Severe congenital hypochromic sideroblastic anemia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D64.0
  • OMIM: 615234
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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