30. Hemochromatosis and Iron Storage Disorders

  1. Eugene R. Schiff MD, MACP, FRCP2,
  2. Willis C. Maddrey MD, MACP, FRCP3 and
  3. Michael F. Sorrell MD, FACP4
  1. Bruce R. Bacon MD and
  2. Robert S. Britton PhD

Published Online: 31 OCT 2011

DOI: 10.1002/9781119950509.ch30

Schiff's Diseases of the Liver, Eleventh Edition

Schiff's Diseases of the Liver, Eleventh Edition

How to Cite

Bacon, B. R. and Britton, R. S. (2011) Hemochromatosis and Iron Storage Disorders, in Schiff's Diseases of the Liver, Eleventh Edition (eds E. R. Schiff, W. C. Maddrey and M. F. Sorrell), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119950509.ch30

Editor Information

  1. 2

    Center for Liver Diseases and Schiff Liver Institute, University of Miami Miller School of Medicine, Miami, FL, USA

  2. 3

    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA

  3. 4

    University of Nebraska College of Medicine, Omaha, NE, USA

Author Information

  1. Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, St. Louis, MO, USA

Publication History

  1. Published Online: 31 OCT 2011
  2. Published Print: 9 DEC 2011

ISBN Information

Print ISBN: 9780470654682

Online ISBN: 9781119950509

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Keywords:

  • Iron;
  • hereditary hemochromatosis;
  • HFE;
  • C282Y mutation;
  • hepcidin;
  • secondary iron overload;
  • parenteral iron overload;
  • phlebotomy;
  • iron chelators

Summary

An increase in systemic iron levels is the consequence of: (i) inherited excessive intestinal absorption of dietary iron (hereditary hemochromatosis); (ii) ineffective erythropoiesis or chronic liver disease; or (iii) parenteral iron administration. Excessive intracellular deposition of iron ultimately results in tissue and organ damage. Most patients with hereditary hemochromatosis are homozygous for the C282Y HFE mutation. Mutations in the iron-related genes encoding for hemojuvelin, hepcidin, ferroportin, transferrin receptor 2, divalent metal transporter 1, and ferritin result in non-HFE-related hereditary hemochromatosis. The pathogenesis of nearly all forms of hereditary hemochromatosis involves inappropriately low expression of the iron-regulatory hormone hepcidin. The diagnosis of iron overload includes serum iron studies (elevated transferrin saturation, elevated serum ferritin levels), genetic testing, and sometimes liver biopsy to assess the hepatic iron concentration and degree of liver injury. Regular phlebotomy therapy prevents or reverses the accumulation of excess iron and prevents the complications of hereditary hemochromatosis.