GTR Home > Conditions/Phenotypes > Hemochromatosis type 1

Summary

Excerpted from the GeneReview: HFE-Associated Hereditary Hemochromatosis
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. Clinical HFE-HH is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. In untreated individuals, early symptoms may include: abdominal pain, weakness, lethargy, and weight loss; the risk of cirrhosis is significantly increased when the serum ferritin is higher than 1,000 ng/mL; other findings may include progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE-HH is more common in men than women.

Genes See tests for all associated and related genes

  • Also known as: BDA2, BMP2A, BMP2
    Summary: bone morphogenetic protein 2

  • Also known as: HFE1, HH, HLA-H, MVCD7, TFQTL2, HFE
    Summary: hemochromatosis

Clinical features

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Practice guidelines

  • AASLD, 2011
    Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases
  • USPSTF, 2006
    Screening for hemochromatosis: recommendation statement.
  • EuroGenetest, 2010
    Clinical utility gene card for: Haemochromatosis [HFE]

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