GTR Home > Conditions/Phenotypes > Hemochromatosis type 3

Summary

Excerpted from the GeneReview: TFR2-Related Hereditary Hemochromatosis
TFR2-related hereditary hemochromatosis (TFR2-HHC) is characterized by increased intestinal iron absorption resulting in iron accumulation in the liver, heart, pancreas, and endocrine organs. Age of onset is earlier than in HFE-associated HHC. The majority of individuals present with signs and symptoms of iron overload in the third decade (e.g., weakness, fatigue, abdominal pain, hepatomegaly, arthritis, arthralgia, progressive increase in skin pigmentation). Others present as young adults with nonspecific symptoms and abnormal serum iron studies or as adults with abnormal serum iron studies and signs of organ involvement including cirrhosis, diabetes mellitus, and arthropathy.

Available tests

36 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: HFE3, TFRC2, TFR2
    Summary: transferrin receptor 2

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