Hemochromatosis, Type 1; Hfe1

Description

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemochromatosis, Type 1; Hfe1

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly
  • Recurrent infections

And another 47 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Hemochromatosis, Type 1; Hfe1 Is also known as hfe, hemochromatosis, hereditary, hemochromatosis, hh.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hemochromatosis, Type 1; Hfe1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HFE.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

HFE
Specificity
100 %
Genes
50 %
HFE Mutation Panel.

By Baylor Miraca Genetics Laboratories (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

HFE
Specificity
100 %
Genes
50 %
Hereditary hemochromatosis.

By Center for Human Genetics, Inc (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

HFE
Specificity
100 %
Genes
50 %
HFE-Associated Hereditary Hemochromatosis.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, C282Y with reflex to H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %
Hemochromatosis, H63D.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

HFE
Specificity
100 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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