Hemochromatosis type 2A

Common Name(s)

Hemochromatosis type 2A

Hemochromatosis type 2A is the more common form of juvenile hemochromatosis. It is a disorder caused by a change (mutation) in the HFE2 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 may eventually cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis. Type 2A 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 HFE2 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.

Symptoms begin in childhood but may not be noticed until age 20. Type 2A most often affects Caucasians but is equally common in men and women. Common symptoms include joint pain, fatigue, weakness, bronzed skin, and diabetes. Type 2A also causes heart disease (cardiomyopathy) and issues with reproductive organs (hypogonadism) that can lead to infertility. 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.

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. 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 2A" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemochromatosis type 2A" 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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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

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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 type 2A" returned 0 free, full-text research articles on human participants.

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 2A" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.