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

Autoimmune Conditions in 235 Hemochromatosis Probands with HFE C282Y Homozygosity and Their First-Degree Relatives.
 

Author(s): James C Barton, J Clayborn Barton

Journal: J Immunol Res. 2015 ;2015():453046.

 

We performed a retrospective study of autoimmune conditions (ACs) in 235 hemochromatosis probands at diagnosis by analyzing age, sex, ACs, history of first-degree family members with ACs (FH), diabetes, heavy ethanol consumption, elevated serum ALT/AST, nonalcoholic fatty liver disease, ...

Last Updated: 27 Oct 2015

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Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
 

Author(s): Carlos J Gallego, Amber Burt, Agnes S Sundaresan, Zi Ye, Christopher Shaw, David R Crosslin, Paul K Crane, S Malia Fullerton, Kris Hansen, David Carrell, Helena Kuivaniemi, Kimberly Derr, Mariza de Andrade, Catherine A McCarty, Terrie E Kitchner, Brittany K Ragon, Sarah C Stallings, Gabriella Papa, Joseph Bochenek, Maureen E Smith, Sharon A Aufox, Jennifer A Pacheco, Vaibhav Patel, Elisha M Friesema, Angelika Ludtke Erwin, Omri Gottesman, Glenn S Gerhard, Marylyn Ritchie, Arno G Motulsky, Iftikhar J Kullo, Eric B Larson, Gerard Tromp, Murray H Brilliant, Erwin Bottinger, Joshua C Denny, Dan M Roden, Marc S Williams, Gail P Jarvik

Journal: Am. J. Hum. Genet.. 2015 Oct;97(4):512-20.

 

Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of HFE variants in individuals undergoing genome-scale sequencing ...

Last Updated: 3 Oct 2015

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Evaluation of a high throughput method for the detection of mutations associated with thrombosis and hereditary hemochromatosis in Brazilian blood donors.
 

Author(s): Vivian Dionisio Tavares Niewiadonski, Juliana Vieira Dos Santos Bianchi, Cesar de Almeida-Neto, Nelson Gaburo, Ester Cerdeira Sabino

Journal:

 

The aim of this study was to evaluate the OpenArray platform for genetic testing of blood donors and to assess the genotype frequencies of nucleotide-polymorphisms (SNPs) associated with venous thrombosis (G1691A and G20210A), hyperhomocysteinemia (C677T, A1298C), and hereditary hemochromatosis ...

Last Updated: 9 May 2015

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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:

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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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 Genetics Home Reference.

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

Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 2 Dec 2015

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Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 27 Jul 2007

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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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