Hemochromatosis type 1

Common Name(s)

Hemochromatosis type 1

Hemochromatosis type 1 is a disorder caused by a change (mutation) in the HFE gene. This change causes the body to absorb too much iron as it digests food. The excess iron is stored in several of the body’s organs and can eventually cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis. Type 1 is the most common. It is an autosomal recessive disorder, meaning that if you inherit the changed gene from both of your parents, then you will have the disorder (genes come in pairs, one copy from each parent). Parents with only one changed copy of the HFE gene are known as carriers. Carriers usually do not have symptoms of the disorders they carry, but in this case slightly higher body iron levels are common.

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. The high levels of iron in the blood can lead to high transferrin saturation, high levels of a protein called ferritin, and high liver iron content. Symptoms often appear in midlife and are more common in men. Women who develop the disorder have usually already gone through menopause. Hemochromatosis is the most common hereditary disorder among the Caucasian population.

For many people, the only symptom is a high level of iron in the blood, which may 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. Treatments are available to manage the disorder. Research is ongoing, so talk with your doctor(s) about the most current treatment options. A genetic counselor can help you understand how the disorder runs in families. 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 type 1" 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 type 1" 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 type 1" returned 1 free, full-text research articles on human participants. First 3 results:

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

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 type 1" returned 0 free, full-text review articles on human participants.

 
 
Top

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: 26 Sep 2016

Go to URL