Iron overload disorder - Definition and Overview

In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body.

• Primary iron overload (see the Haemochromatosis page):
  • Type 1: Haemochromatosis associated to mutations in the HFE gene:
    • C282Y homozygosity
    • C282Y/H63D compound heterozygosity
  • Type 2: Juvenile hereditary iron overload
    • 2A: mutation of an unknown gene, tentatively called HFE2A
    • 2B: mutation in hepcidin antimicrobial peptide (HAMP)
  • Type 3: Hereditary iron overload associated to mutations in the Transferrin receptor 2 gene
  • Type 4: Hereditary iron overload associated to mutations in the SLC11A3 gene (Ferroportin/MTP/IREG-1)
  • Aceruloplasminaemia (rare disease)
  • Congenital atransferrinaemia (rare disease)
  • Others (unidentified genes)
    • Juvenile haemochromatosis
    • Neonatal haemochromatosis
• Secondary iron overload
  • Dietary iron overload
  • Parental iron overload (see item in Haemochromatosis article)
  • Iron loading anaemias (see item in Haemochromatosis article)
  • Long term haemodialysis
  • Chronic liver disease
    • Hepatitis C
    • Alcoholic cirrhosis, especially when advanced
    • Non-alcoholic steatohepatitis
  • Porphyria cutanea tarda
  • Post-portacaval shunting
  • Dysmetabolic iron overload syndrome
• Miscellaneous
  • Iron overload in sub-Sahara Africa (see item in Haemochromatosis article)

Sources

• Pietrangelo A. Haemochromatosis. Gut 2003;52(Suppl 2):23-30 (http://gut.bmjjournals.com/cgi/content/abstract/52/suppl_2/ii23)
• Andrews NC. Disorders of iron metabolism. N Engl J Med 1999;341:1986-95 (http://content.nejm.org/cgi/content/extract/341/26/1986)