Hemochromatosis

Common Name(s)

Hemochromatosis

Hemochromatosis is a disease in which too much iron builds up in the body.  This extra iron is toxic to the body and can damage the organs. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.

Hemochromatosis may be acquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about the specific types of hereditary hemochromatosis click on the disease names below:

Hemochromotosis type 1
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4

There is also a neonatal form of hemochromatosis:

Neonatal hemochromatosis
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemochromatosis" 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: 21 Dec 2012

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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: 4 Oct 2012

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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: 4 Jan 2013

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Iron Overload Diseases Association, Inc.

Iron Overload Disease Association's mission is to lead the search for the millions of Americans and other nationals who have undiagnosed iron overload, to promote adequate treatment, and to prevent the severe health problems and avoidable deaths that results from neglect of iron overload.

Last Updated: 2 Sep 2010

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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" 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: 21 Dec 2012

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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: 4 Oct 2012

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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: 4 Jan 2013

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Iron Overload Diseases Association, Inc.

Iron Overload Disease Association's mission is to lead the search for the millions of Americans and other nationals who have undiagnosed iron overload, to promote adequate treatment, and to prevent the severe health problems and avoidable deaths that results from neglect of iron overload.

http://www.ironoverload.org

Last Updated: 2 Sep 2010

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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" returned 403 free, full-text research articles on human participants. First 3 results:

How mutant HFE causes hereditary hemochromatosis.
 

Author(s): Martina U Muckenthaler

Journal: Blood. 2014 Aug;124(8):1212-3.

 

Last Updated: 22 Aug 2014

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Profound morphological changes in the erythrocytes and fibrin networks of patients with hemochromatosis or with hyperferritinemia, and their normalization by iron chelators and other agents.
 

Author(s): Etheresia Pretorius, Janette Bester, Natasha Vermeulen, Boguslaw Lipinski, George S Gericke, Douglas B Kell

Journal:

 

It is well-known that individuals with increased iron levels are more prone to thrombotic diseases, mainly due to the presence of unliganded iron, and thereby the increased production of hydroxyl radicals. It is also known that erythrocytes (RBCs) may play an important role during ...

Last Updated: 13 Jan 2014

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Screening for feature genes associated with hereditary hemochromatosis and functional analysis with DNA microarrays.
 

Author(s): J Wang, X Zhou, J Zhao, Z Li, X Li

Journal:

 

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. ...

Last Updated: 16 Dec 2013

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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" returned 57 free, full-text review articles on human participants. First 3 results:

Hemochromatosis: the new blood donor.
 

Author(s): Susan F Leitman

Journal: Hematology Am Soc Hematol Educ Program. 2013 ;2013():645-50.

 

Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a common inherited iron overload disorder in whites of northern European descent. Hepcidin deficiency, the hallmark of the disorder, leads to dysregulated intestinal iron absorption and progressive ...

Last Updated: 9 Dec 2013

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[Hemochromatosis: one form of iron-overload diseases].
 

Author(s): Ferenc Szalay

Journal: Orv Hetil. 2013 Jul;154(29):1156-64.

 

Iron-overload diseases are typically insidious, causing progressive and irreversible organ injury before clinical symptoms develop. Some iron-overload diseases as HFE-associated hemochromatosis and beta-thalassemia are quite common, whereas others are very rare. Early diagnosis is ...

Last Updated: 15 Jul 2013

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Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review.
 

Author(s): Diego Moretti, Gerrigje M van Doorn, Dorine W Swinkels, Alida Melse-Boonstra

Journal: Am. J. Clin. Nutr.. 2013 Aug;98(2):468-79.

 

Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between dietary iron absorption and iron status. The management of HH is achieved by repeated phlebotomies.

Last Updated: 22 Jul 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 27 Jul 2007

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Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 11 Nov 2014

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Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome
 

Status: Recruiting

Condition Summary: Hemochromatosis; Myelodysplastic Syndromes

 

Last Updated: 1 Jul 2013

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