Hemochromatosis

Common Name(s)

Hemochromatosis

Hemochromatosis is a group of genetic disorders that cause the body to absorb too much iron as it digests food. This excess iron is stored in several of the body’s organs and can eventually cause damage. The iron build up can cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis. The disorder is usually caused by altered (mutated) genes inherited from both parents (autosomal recessive), but in rare cases can be caused by a dominant gene from one parent. Hemochromatosis can also be non-hereditary, but in this case it is usually caused by another condition such as anemia, liver disease or an infection.

Common symptoms include joint pain, fatigue, weakness, bronzed skin, diabetes, or heart failure. In men, hemochromatosis may cause loss of sex drive (low libido) or impotence. Symptoms often appear in midlife and more serious symptoms occur more often in men. Women who develop the disease have usually already gone through menopause. Hemochromatosis is the most common hereditary disease among the Caucasian population. There are juvenile and newborn forms as well.

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. There are treatments available to manage the disorder. Research is ongoing, so talk with your doctor and specialists about the most current treatment options. A genetic counselor can help you understand how the disease runs in families and options for genetic testing. 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" 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" 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" returned 485 free, full-text research articles on human participants. First 3 results:

Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.
 

Author(s): Paul Adams, Albert Altes, Pierre Brissot, Barbara Butzeck, Ioav Cabantchik, Rodolfo Cançado, Sonia Distante, Patricia Evans, Robert Evans, Tomas Ganz, Domenico Girelli, Rolf Hultcrantz, Gordon McLaren, Ben Marris, Nils Milman, Elizabeta Nemeth, Peter Nielsen, Brigitte Pineau, Alberto Piperno, Graça Porto, Dianne Prince, John Ryan, Mayka Sanchez, Paulo Santos, Dorine Swinkels, Emerência Teixeira, Ketil Toska, Annick Vanclooster, Desley White,

Journal: Hepatol Int. 2018 Mar;12(2):83-86.

 

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects ...

Last Updated: 31 Dec 1969

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Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis.
 

Author(s): Takeo Fujino, Shujiro Inoue, Shunsuke Katsuki, Taiki Higo, Tomomi Ide, Yoshinao Oda, Hiroyuki Tsutsui

Journal: Int Heart J. 2018 Mar;59(2):427-430.

 

A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple ...

Last Updated: 31 Dec 1969

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Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
 

Author(s): Virginie Scotet, Philippe Saliou, Marianne Uguen, Carine L'Hostis, Marie-Christine Merour, Céline Triponey, Brigitte Chanu, Jean-Baptiste Nousbaum, Gerald Le Gac, Claude Ferec

Journal:

 

HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis. This autosomal recessive disease typically manifests later in women than men. Although it is commonly stated that pregnancy is, with menses, one of the factors that ...

Last Updated: 31 Dec 1969

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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 56 free, full-text review articles on human participants. First 3 results:

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
 

Author(s): Wei Zhang, Tingxia Lv, Jian Huang, Xiaojuan Ou

Journal: Medicine (Baltimore). 2017 Sep;96(38):e8064.

 

Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis ...

Last Updated: 31 Dec 1969

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Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.
 

Author(s): Edouard Bardou-Jacquet, Zeineb Ben Ali, Marie-Pascale Beaumont-Epinette, Olivier Loreal, Anne-Marie Jouanolle, Pierre Brissot

Journal: Clin Res Hepatol Gastroenterol. 2014 Apr;38(2):143-54.

 

Rare genetic iron overload diseases are an evolving field due to major advances in genetics and molecular biology. Genetic iron overload has long been confined to the classical type 1 hemochromatosis related to the HFE C282Y mutation. Breakthroughs in the understanding of iron metabolism ...

Last Updated: 31 Dec 1969

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Hereditary hemochromatosis.
 

Author(s): Brian K Crownover, Carlton J Covey

Journal: Am Fam Physician. 2013 Feb;87(3):183-90.

 

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis Type 1

 

Last Updated: 20 Sep 2018

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Transferrin Saturation and Asthenia in Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatoses, Genetic

 

Last Updated: 28 Nov 2017

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