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

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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Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients.
 

Author(s): Fatima Mendonça Jorge Vieira, Maria Cristina Nakhle, Clarice Pires Abrantes-Lemos, Eduardo Luiz Rachid Cançado, Vitor Manoel Silva dos Reis

Journal: An Bras Dermatol. ;88(4):530-40.

 

Porphyria cutanea tarda is the most common form of porphyria, characterized by the decreased activity of the uroporphyrinogen decarboxylase enzyme. Several reports associated HFE gene mutations of hereditary hemochromatosis with porphyria cutanea tarda worldwide, although up to date ...

Last Updated: 26 Sep 2013

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Hemochromatosis enhances tumor progression via upregulation of intracellular iron in head and neck cancer.
 

Author(s): Michelle Lenarduzzi, Angela B Y Hui, Shijun Yue, Emma Ito, Wei Shi, Justin Williams, Jeff Bruce, Noriko Sakemura-Nakatsugawa, Wei Xu, Aaron Schimmer, Fei-Fei Liu

Journal:

 

Despite improvements in treatment strategies for head and neck squamous cell carcinoma (HNSCC), outcomes have not significantly improved; highlighting the importance of identifying novel therapeutic approaches to target this disease. To address this challenge, we proceeded to evaluate ...

Last Updated: 30 Aug 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 56 free, full-text review articles on human participants. First 3 results:

[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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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: 19 Feb 2013

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[The new paradigm of neonatal hemochromatosis: fetal alloimmune hepatitis].
 

Author(s): Alejandro Costaguta, Fernando Alvarez

Journal: Arch Argent Pediatr. ;110(3):237-43.

 

The classical model of neonatal hemochromatosis was based on the analogy with hereditary hemochromatosis. Medical treatment consisted on the antioxidant-chelator cocktail. The new hypothesis of an alloimmune origin of the process by which the pregnant woman mounts an IgG-based destructive ...

Last Updated: 4 Jul 2012

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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: 4 Apr 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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