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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 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 Citation Map 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 CrossRef Citing Articles via Google Scholar Google Scholar Articles by Camaschella, C. Search for Related Content PubMed PubMed Citation Articles by Camaschella, C. Related Collections Red Cells Reviews in Translational Hematology Free Research Articles Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  REVIEWS IN TRANSLATIONAL HEMATOLOGY Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders Clara Camaschella From the Università Vita-Salute and Istituto di Ricovero e Cura a Carratere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy. Abstract 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 that 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

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