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GTR Home > Conditions/Phenotypes > Hemochromatosis type 1

Hemochromatosis type 1

Synonyms
HFE-Associated Hereditary Hemochromatosis
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: HFE-Related Hemochromatosis
HFE-related hemochromatosis (HFE HC) is characterized by increased intestinal iron absorption and increased recycling of iron derived from senescent red blood cells. The phenotypic spectrum of HFE HC includes clinical HFE HC (increased serum ferritin and transferrin saturation and end-organ damage secondary to iron overload), biochemical HFE HC (increased serum ferritin and transferrin saturation without end-organ damage), and non-penetrant HFE HC (neither clinical manifestations of HFE HC nor iron overload are present, although elevated transferrin saturation may occur). Clinical HFE HC is characterized by excessive iron in the liver, pancreas, heart, skin, joints, and anterior pituitary gland. In untreated individuals, early manifestations include weakness, chronic fatigue, abdominal pain, weight loss, arthralgias, and diabetes mellitus. Individuals with HFE HC have an increased risk of cirrhosis when their serum ferritin is higher than 1,000 µg/L. Other findings of severe iron overload include hypogonadism, congestive heart failure, arrhythmias, and progressive increase in skin pigmentation. Clinical HFE HC is more common in males than females.
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:
James C Barton
Charles J Parker
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Available tests

95 tests are in the database for this condition.

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Clinical tests (95 available)

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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