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Blood, 1 December 2005, Vol. 106, No. 12, pp. 3710-3717. Prepublished online as a Blood First Edition Paper on July 19, 2005; DOI 10.1182/blood-2005-05-1857. This Article Full Text (PDF) All Versions of this Article: 2005-05-1857v1 106/12/3710    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Camaschella, C. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted May 9, 2005 Accepted July 10, 2005 Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Clara Camaschella* Universita Vita Salute and IRCCS Ospedale San Raffaele, Milan, Italy * Corresponding author; email: camaschella.clara{at}hsr.it. Genetic analysis of hemochromatosis has led to the discovery of a number of genes whose mutations disrupt iron homeostasis and lead to iron overload. The introduction of molecular tests into clinical practice has provided a tool for early diagnosis of these conditions. It has become clear that hemochromatosis includes a spectrum of disorders that range from simple biochemical abnormalities to chronic asymptomatic tissue damage in midlife to serious life-threatening diseases in young subjects. Molecular studies have identified the systemic loop which controls iron homeostasis and is centered on the hepcidin-ferroportin interaction. The complexity of this regulatory pathway accounts for the genetic heterogeneity of hemochromatosis and related disorders and raises the possibility that genes encoding components of the pathway may be modifiers of the main genotype. Molecular diagnosis has improved the classification of the genetic conditions leading to iron overload and identified novel entities, characterized by both iron loading and variable degrees of anemia. Despite the progress in the diagnosis, classification and mechanisms of iron overload disorders, the treatment of affected patients continues to rely on regular phlebotomy. Understanding the molecular circuitry of iron control may lead to the identification of potential therapeutic targets for novel treatment strategies to be used in association with, or as an alternative to phlebotomy. 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