Hereditary iron and copper deposition: Diagnostics, pathogenesis and therapeutics

Jan Aaseth, Trond Peder Flaten, Ole Andersen

    Research output: Contribution to journalJournal articleResearchpeer-review


    Hereditary deposition of iron (primary haemochromatosis) or copper (Wilson's disease) are autosomal recessive metabolic disease characterized by progressive liver pathology and subsequent involvement of various other organs. The prevalence of primary haemochromatosis is approximately 0.5%, about 200 times higher than the prevalence of Wilson's disease. The two diseases are characterized by homozygous occurrences of mutations in the HFE gene on chromosome 6 (primary haemochromatosis) and the ATP7B gene on chromosome 13 (Wilson's disease). Unlike most other inherited conditions, these diseases can be successfully treated, emphasizing the importance of early diagnosis. Serum ferritin values, transferrin saturation and genetic analysis are used when diagnosing haemochromatosis. The diagnostics of Wilson's disease depends on the use of urinary copper values, serum ceruloplasmin and liver biopsy. If untreated, both of these genetic diseases result in rapidly progressing multiorgan damage and early death. The key treatment for haemochromatosis is phlebotomy, for Wilson's disease chelation or Zn treatment. Although the present treatments considerably improve the prognosis of patients, they may be inadequate in patients diagnosed so late that extensive body deposits of metal have been developed. The main research needs in this field are to further clarify molecular mechanisms of disease progression and to develop new chelators that are more effective and less toxic than those presently available
    Original languageEnglish
    JournalScandinavian Journal of Gastroenterology
    Issue number6
    Pages (from-to)673-681
    Number of pages9
    Publication statusPublished - 2007


    • Chelating agents
    • chelation therapy
    • copper
    • diagnosis
    • haemochromatosis
    • hepatolenticular degeneration
    • iron phlebotomy
    • therapy

    Cite this