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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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 481 free, full-text research articles on human participants. First 3 results:

GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
 

Author(s): Federico Greni, Luca Valenti, Raffaella Mariani, Irene Pelloni, Raffaela Rametta, Fabiana Busti, Giulia Ravasi, Domenico Girelli, Silvia Fargion, Stefania Galimberti, Alberto Piperno, Sara Pelucchi

Journal: Ann Hepatol. ;16(3):451-456.

 

HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light ...

Last Updated: 20 Apr 2017

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 GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
 

Author(s): Alexander Levstik, Alan Stuart, Paul C Adams

Journal: Ann Hepatol. ;15(6):907-910.

 

Previous studies in high and low expressors has demonstrated that a variant in the GNPAT gene (D519G, Rs11558492, chromosome 1, exon 11) has been associated with severe iron overload in C282Y homozygotes for hemochromatosis. In this study, a GNPAT variant was assessed prospectively ...

Last Updated: 14 Oct 2016

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A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
 

Author(s): Noriyuki Yamakawa, Kengo Oe, Naoichiro Yukawa, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Hajime Yoshifuji, Koichiro Ohmura, Yasuo Miura, Naohisa Tomosugi, Hiroshi Kawabata, Akifumi Takaori-Kondo, Tsuneyo Mimori

Journal: Intern. Med.. ;55(18):2697-701.

 

Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia ...

Last Updated: 16 Sep 2016

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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 58 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: 20 Sep 2017

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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: 28 Apr 2014

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 18 Oct 2017

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Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis Type 1

 

Last Updated: 26 Sep 2017

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Last Updated: 28 Jun 2017

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