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GTR Home > Conditions/Phenotypes > Hemochromatosis type 2A

Hemochromatosis type 2A

Synonyms
HJV (HFE2)-Related Juvenile Hemochromatosis

Summary

Excerpted from the GeneReview: Juvenile Hemochromatosis
Juvenile hemochromatosis is characterized by onset of severe iron overload occurring typically in the first to third decades of life. Males and females are equally affected. Prominent clinical features include hypogonadotropic hypogonadism, cardiomyopathy, glucose intolerance and diabetes, arthropathy, and liver fibrosis or cirrhosis. Hepatocellular cancer has been reported occasionally. The main cause of death is cardiac disease. If juvenile hemochromatosis is detected early enough and if blood is removed regularly through the process of phlebotomy to achieve iron depletion, morbidity and mortality are greatly reduced.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Alberto Piperno
Francesca Bertola
Angela Bentivegna
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Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: HFE2, HFE2A, JH, RGMC, HJV
    Summary: hemojuvelin BMP co-receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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