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Hemochromatosis

  • James E. Nelson
  • Debbie Trinder
  • Kris V. Kowdley
Chapter
Part of the Molecular Pathology Library book series (MPLB, volume 5)

Abstract

Hereditary hemochromatosis (HH) is one of the most ­common genetic disorders among Caucasians. The first clinical description of hemochromatosis was over a century ago by Tousseau [1]. The disease is characterized by increased iron deposition in multiple organs due to increased iron absorption from a normal diet [2]. The consequences of iron overload in this setting are end-organ damage in multiple tissues such as the liver, heart, anterior pituitary gland, pancreas, skin, and joints. The main clinical complications in patients with HH include cirrhosis and hepatocellular carcinoma (HCC), hypogonadotropic hypogonadism, arrhythmias, insulin-dependent diabetes, and arthropathy, especially involving the metacarpophalangeal (MCP) joints [2, 3]. The mainstay of therapy is iron depletion by phlebotomy. Early diagnosis is important because treatment prior to the development of cirrhosis is associated with normal life expectancy and drastically reduces the risk of cirrhosis and HCC [2, 3]. By contrast, patients who have cirrhosis at the time of diagnosis have an increased mortality risk due to end-stage liver disease and liver cancer. In this chapter, we summarize the molecular aspects of iron metabolism, the cellular and molecular abnormalities associated with HH, and other forms of iron overload.

Keywords

Iron Overload Hepatic Stellate Cell Iron Uptake Iron Deposition Hereditary Hemochromatosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • James E. Nelson
  • Debbie Trinder
  • Kris V. Kowdley
    • 1
  1. 1.Liver Center of ExcellenceBenaroya Research Institute at Virginia MasonSeattleUSA

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