Orphanet: Rare hereditary hemochromatosis

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Rare hereditary hemochromatosis

Disease definition

Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease.


Classification level: Group of disorders
  • Synonym(s):
    • Iron overload disease
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E83.1
  • OMIM: -
  • UMLS: C0018995  C0282193
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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