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Screening for hemochromatosis by measuring ferritin levels: A more effective approach

Academic Article
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Overview

authors

  • Waalen, Jill
  • Felitti, V. J.
  • Gelbart, T.
  • Beutler, Ernest

publication date

  • April 2008

journal

  • Blood  Journal

abstract

  • Because the penetrance of HFE hemochromatosis is low, traditional population screening measuring the transferrin saturation is unlikely to be cost-effective because the majority of subjects detected neither have clinical disease nor are likely to develop it. Three independent studies show that only patients with serum ferritin concentrations more than 1000 microg/L are at risk for cirrhosis, one of the main morbidities of hemochromatosis. Among 29,699 white subjects participating in the Scripps/Kaiser hemochromatosis study, only 59 had serum ferritin levels more than 1000 microg/L; 24 had homozygous mutant or compound heterozygous mutant HFE genotypes. In all but 5 of the other subjects, the causes of elevated ferritin were excessive alcohol intake, cancer, or liver disease. Screening for hemochromatosis with serum ferritin levels will detect the majority of patients who will be clinically affected and may detect other clinically significant disease in patients who do not have hemochromatosis genotypes. Because the ferritin level of the majority of adult homozygotes for HFE mutations does not rise over long periods of time, excluding subjects with serum ferritin levels less than or equal to 1000 microg/L should not result in missed opportunities for early treatment of patients who could benefit.

subject areas

  • Adult
  • Aged
  • Alcohol Drinking
  • European Continental Ancestry Group
  • Female
  • Ferritins
  • Hemochromatosis
  • Heterozygote
  • Histocompatibility Antigens Class I
  • Homozygote
  • Humans
  • Liver Diseases
  • Male
  • Mass Screening
  • Membrane Proteins
  • Middle Aged
  • Neoplasms
  • Penetrance
  • Transferrin
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Identity

PubMed Central ID

  • PMC2275006

International Standard Serial Number (ISSN)

  • 0006-4971

Digital Object Identifier (DOI)

  • 10.1182/blood-2007-07-102673

PubMed ID

  • 18025154
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Additional Document Info

start page

  • 3373

end page

  • 3376

volume

  • 111

issue

  • 7

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