Revisiting Hereditary Hemochromatosis: Current Concepts and Progress

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48 Scopus citations

Abstract

Originally regarded as a rare affliction notable for its distinctive evolution to "bronze diabetes," hereditary hemochromatosis is now recognized as the most common genetic disorder in populations of European ancestry. Recent advances in our understanding of iron metabolism, the identification of the gene responsible for hemochromatosis, and large epidemiologic studies have changed the diagnostic approach toward patients with hereditary hemochromatosis and other forms of iron overload. This article reviews the pathophysiology, epidemiology, clinical features, diagnostic testing, and management of hemochromatosis for the primary care provider.

Original languageEnglish (US)
Pages (from-to)391-399
Number of pages9
JournalAmerican Journal of Medicine
Volume119
Issue number5
DOIs
StatePublished - May 2006

Keywords

  • C282Y
  • Hemochromatosis
  • HFE
  • Iron overload

ASJC Scopus subject areas

  • Nursing(all)

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