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GTR Home > Conditions/Phenotypes > Hemochromatosis type 1

Summary

Excerpted from the GeneReview: HFE Hemochromatosis
HFE hemochromatosis is characterized by inappropriately high absorption of iron by the small intestinal mucosa. The phenotypic spectrum of HFE hemochromatosis includes: Persons with clinical HFE hemochromatosis, in whom manifestations of end-organ damage secondary to iron overload are present; Individuals with biochemical HFE hemochromatosis, in whom transferrin-iron saturation is increased and the only evidence of iron overload is increased serum ferritin concentration; and Non-expressing p.Cys282Tyr homozygotes, in whom neither clinical manifestations of HFE hemochromatosis nor iron overload are present. Clinical HFE hemochromatosis is characterized by excessive storage of iron in the liver, skin, pancreas, heart, joints, and anterior pituitary gland. In untreated individuals, early symptoms include: abdominal pain, weakness, lethargy, weight loss, arthralgias, diabetes mellitus; and increased risk of cirrhosis when the serum ferritin is higher than 1,000 ng/mL. Other findings may include progressive increase in skin pigmentation, congestive heart failure, and/or arrhythmias, arthritis, and hypogonadism. Clinical HFE hemochromatosis is more common in men than women.

Genes See tests for all associated and related genes

  • Also known as: BDA2, BMP2A, SSFSC, SSFSC1, BMP2
    Summary: bone morphogenetic protein 2

  • Also known as: HFE1, HH, HLA-H, MVCD7, TFQTL2, HFE
    Summary: homeostatic iron regulator

Clinical features

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Practice guidelines

  • ACMG SF v3.1, 2022
    ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)
  • ACMG SF v3.0, 2021
    ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
  • 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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