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GTR Home > Conditions/Phenotypes > Hemochromatosis type 3

Hemochromatosis type 3

Synonyms
Hemochromatosis due to defect in transferrin receptor 2; Hereditary hemochromatosis type 3; TFR2-Related Hereditary Hemochromatosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: TFR2-Related Hemochromatosis
TFR2-related hemochromatosis (TFR2-HC) 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-related hemochromatosis. 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, and 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, arthropathy, hypogonadism, cardiomyopathy, and increase in skin pigmentation.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Marco De Gobbi
Antonella Roetto
view full author information

Available tests

57 tests are in the database for this condition.

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Clinical tests (56 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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