Hemochromatosis type 4

Common Name(s)

Hemochromatosis type 4

Hemochromatosis type 4 is a disorder caused by a change (mutation) in the SLC40A1 gene. This change causes the body to absorb too much iron as it digests food. The excess iron is stored in several of the body’s organs and can eventually cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis, but Type 4 is the only autosomal dominant form. Autosomal dominant means that an individual only needs to inherit one changed SCL40A1 gene to have the disorder (genes come in pairs, one copy from each parent). If you have Type 4, you have a 50% chance of passing it down to each of your children. However, some people with Type 4 do not ever have serious symptoms. Those who show symptoms have good chances of leading a normal life if treatment begins early.

Common symptoms include joint pain, fatigue, weakness, bronzed skin, diabetes, heart failure, and issues with the ovaries or testes (hypogonadism). In men, hemochromatosis may cause loss of sex drive (low libido) or impotence. Symptoms often appear in midlife, usually between the ages of 40 to 60. Women who develop the disorder have usually already gone through menopause.

For many people, the only symptom is a high level of iron in the blood, which can make forming a diagnosis challenging. Two types of blood tests may be done to diagnose the disorder. To confirm the diagnosis, other tests may include an MRI and liver biopsy. Treatments are available to manage the disorder. Research is ongoing, so talk with your doctor(s) about the most current treatment options. A genetic counselor can help you understand how the disorder runs in families. Support groups are also a good source of information and can connect you with others living with hemochromatosis.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemochromatosis type 4" for support, advocacy or research.

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American Hemochromatosis Society, Inc.

The mission of the American Hemochromatosis Society (AHS) is to educate and support the victims of HFE-associated hereditary hemochromatosis (genetic iron overload) and their families as well as educate the medical community on the latest research on Hereditary Hemochromatosis (HH). AHS' aim is to identify through genetic testing, the 43 million+ Americans who unknowingly carry the single or double gene mutations for HH which puts them at risk for loading excess iron.

Last Updated: 13 Sep 2015

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Haemochromatosis Australia.

Our vision is that no Australian should suffer harm from haemochromatosis. As the primary support and advocacy group for Australians affected by haemochromatosis, we provide support and promote awareness, early diagnosis and research.

Last Updated: 13 Sep 2015

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Iron Disorders Institute

Reducing pain, suffering and unnecessary death due to disorders of iron through awareness, education and research.

Last Updated: 13 Sep 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemochromatosis type 4" for support, advocacy or research.

Logo
American Hemochromatosis Society, Inc.

The mission of the American Hemochromatosis Society (AHS) is to educate and support the victims of HFE-associated hereditary hemochromatosis (genetic iron overload) and their families as well as educate the medical community on the latest research on Hereditary Hemochromatosis (HH). AHS' aim is to identify through genetic testing, the 43 million+ Americans who unknowingly carry the single or double gene mutations for HH which puts them at risk for loading excess iron.

http://www.americanhs.org

Last Updated: 13 Sep 2015

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Haemochromatosis Australia.

Our vision is that no Australian should suffer harm from haemochromatosis. As the primary support and advocacy group for Australians affected by haemochromatosis, we provide support and promote awareness, early diagnosis and research.

http://www.haemochromatosis.org.au

Last Updated: 13 Sep 2015

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Iron Disorders Institute

Reducing pain, suffering and unnecessary death due to disorders of iron through awareness, education and research.

http://www.irondisorders.org

Last Updated: 13 Sep 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemochromatosis type 4" returned 1 free, full-text research articles on human participants. First 3 results:

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.
 

Author(s): Isabelle Callebaut, Rozenn Joubrel, Serge Pissard, Caroline Kannengiesser, Victoria Gérolami, Cécile Ged, Estelle Cadet, François Cartault, Chandran Ka, Isabelle Gourlaouen, Lénaick Gourhant, Claire Oudin, Michel Goossens, Bernard Grandchamp, Hubert De Verneuil, Jacques Rochette, Claude Férec, Gérald Le Gac

Journal: Hum. Mol. Genet.. 2014 Sep;23(17):4479-90.

 

Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) ...

Last Updated: 4 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemochromatosis type 4" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis.
 

Status: Recruiting

Condition Summary: Hemochromatosis, Type 4; Ferroportin Disease; Dysmetabolic Hepatosiderosis; Diagnosis

 

Last Updated: 26 Oct 2015

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