HFE-Associated Hereditary Hemochromatosis

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HFE-associated hereditary hemochromatosis (HFE-HH) is characterized by inappropriately high absorption of iron by the gastrointestinal mucosa. The phenotypic spectrum of HFE-HH is now recognized to include:

  • Those with clinical HFE-HH, in which manifestations of end-organ damage secondary to iron storage are present;
  • Those with biochemical HFE-HH, in which the only evidence of iron overload is increased transferrin-iron saturation and increased serum ferritin concentration;
  • Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE-HH nor iron overload is present.

Read the full article at: http://www.ncbi.nlm.nih.gov/books/NBK1440/

Copyright © 1993-2016, University of Washington, Seattle. All rights reserved. http://www.ncbi.nlm.nih.gov/books/NBK1116/

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