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.

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.

Last Updated: 13 Sep 2015

View Details
Logo
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

View Details
Iron Disorders Institute

Reducing pain, suffering and unnecessary death due to disorders of iron through awareness, education and research.

Last Updated: 13 Sep 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

 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

Go To URL
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

Go To URL
Usefulness of Magnetic Resonance Imaging for the Diagnosis of Hemochromatosis with Severe Hepatic Steatosis in Nonalcoholic Fatty Liver Disease.
 

Author(s): Yuichi Nozaki, Noriko Sato, Tsuyoshi Tajima, Kanehiro Hasuo, Yasushi Kojima, Kumiko Umemoto, Saori Mishima, Shintaro Mikami, Tomohiro Nakayama, Toru Igari, Junichi Akiyama, Masatoshi Imamura, Naohiko Masaki, Mikio Yanase

Journal: Intern. Med.. 2016 ;55(17):2413-7.

 

The ratio of the number of patients with non-alcoholic steatohepatitis (NASH) to the total number of patients with liver dysfunction has increased in many countries around the world. Liver dysfunction is also caused by multiple blood transfusions in patients with leukemia and other ...

Last Updated: 1 Sep 2016

Go To URL

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:

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

Go To URL
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

Go To URL
[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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 21 Apr 2017

Go to URL
Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis Type 1

 

Last Updated: 26 Sep 2016

Go to URL
Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study
 

Status: Recruiting

Condition Summary: Refractory Hemochromatosis Rheumatism

 

Last Updated: 14 Feb 2017

Go to URL