Iron Overload

Clara Camaschella, A. Victor Hoffbrand, Maria Domenica Cappellini

Research output: Chapter in Book/Report/Conference proceedingChapter


Excess iron is toxic and may cause damage to the liver, endocrine organs and heart. Primary iron overload (hereditary haemochromatosis) is due to mutations of genes of the hepcidin/ferroportin axis that controls systemic iron homeostasis. The most frequent is homozygous C282Y mutation of HFE. Excess iron absorbed from the gut because of low serum hepcidin accumulates predominantly in the liver where it may cause fibrosis, cirrhosis and hepatocellular carcinoma. Skin melanin pigmentation, arthritis, cardiomyopathy, diabetes and infertility are other clinical manifestations especially in severe or early onset disease. Iron status is assessed by serum ferritin and by non-invasive MRI techniques as well as by organ function. Liver biopsy also gives information of liver damage. Phlebotomy is the cornerstone of treatment to reduce iron stores to normal, usually assessed by a serum ferritin of 50-100 ug/l. Secondary iron overload is caused by chronic blood transfusions, as in thalassemia major and other transfusion dependent anaemias, or is due to excessive iron absorption in certain anemias such as non-transfusion-dependent-thalassaemia. Three iron chelator drugs, desferrioxamine given parenterally and deferiprone and deferasirox, both given orally are now licensed and their use alone or in combination has improved survival of thalassaemia major and of other chronically transfused patients. The indications for their use in conditions such as sickle cell anaemia and myelodysplasia are the subject of current studies.

Original languageEnglish
Title of host publicationPostgraduate Haematology: Seventh Edition
PublisherWiley Blackwell
Number of pages13
ISBN (Electronic)9781118853771
ISBN (Print)9781118854327
Publication statusPublished - Nov 6 2015


  • Haemochromatosis
  • Hepcidin
  • Iron
  • Iron chelation
  • Phlebotomy
  • Thalassaemia

ASJC Scopus subject areas

  • Medicine(all)


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