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Hemochromatosis: Clinical Aspects and Response to Therapy

  • Norman D. Grace

Abstract

One hundred years ago, von Recklinghausen introduced the term hemochromatosis to describe the triad of diabetes mellitus, hyperpigmentation of the skin, and cirrhosis of the liver with iron overload. Since that time, a few milestones have greatly contributed to our understanding of the disorders of iron metabolism. In a classic monograph published in 1935, Sheldon1 reviewed 311 published cases of hemochromatosis and proposed that the disease was the result of a genetic abnormality in iron metabolism. Seven years later, Balfour et al.2 introduced venesection therapy as a method to deplete the excessive iron stores. During the early 1960s, MacDonald3 published a series of papers questioning the genetic concept of the disease and raising a possible role for alcohol. He argued that cirrhosis and iron deposition may occur together but were not causally related. The difficulties in developing an animal model for the disease raised doubts about the hepatotoxicity of iron.4 These concerns have been resolved by recent major advances. The toxicity of iron has been demonstrated at the cellular level, and histocompatability typing has verified the inheritance of hemochromatosis as an autosomal-recessive disorder in most, but not all, affected patients.5

Keywords

Serum Ferritin Iron Overload Iron Deposition Transferrin Saturation Hereditary Spherocytosis 
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

© Plenum Publishing Corporation 1989

Authors and Affiliations

  • Norman D. Grace
    • 1
    • 2
  1. 1.Tufts University School of MedicineUSA
  2. 2.Gastroenterology ServiceThe Faulkner HospitalBostonUSA

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