Hemochromatosis type 3

Common Name(s)

Hemochromatosis type 3

Hemochromatosis type 3 is a disorder caused by a change (mutation) in the TFR2 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, and Type 3 is one of the rarest forms. 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 TFR2 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, heart failure, and issues with the ovaries or testes (hypogonadism). In men, hemochromatosis may cause loss of sex drive (low libido) or impotence. Symptoms often appear before age 30. 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 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 3" 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 3" 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 type 3" returned 4 free, full-text research articles on human participants. First 3 results:

Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.
 

Author(s): Sara Pelucchi, Raffaella Mariani, Paola Trombini, Sabina Coletti, Matteo Pozzi, Valentina Paolini, Donatella Barisani, Alberto Piperno

Journal: Haematologica. 2009 Feb;94(2):276-9.

 

Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic ...

Last Updated: 2 Feb 2009

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Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis.
 

Author(s): Daniel F Wallace, Lesa Summerville, Emily M Crampton, V Nathan Subramaniam

Journal: Am. J. Physiol., Cell Physiol.. 2008 Feb;294(2):C383-90.

 

Transferrin receptor 2 (TfR2), a homologue of transferrin receptor 1 (TfR1), is a key molecule involved in the regulation of iron homeostasis. Mutations in TfR2 result in iron overload with similar features to HFE-associated hereditary hemochromatosis. The precise role of TfR2 in ...

Last Updated: 15 Feb 2008

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Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.
 

Author(s): S Majore, F Milano, F Binni, L Stuppia, A Cerrone, A Tafuri, C De Bernardo, G Palka, P Grammatico

Journal: Haematologica. 2006 Aug;91(8 Suppl):ECR33.

 

The p.M172K TFR2 mutation was identified in two Italian siblings aged 32 and 40 years old with primary iron overload. The two patients showed a severe increase in serum iron indices. From the age of 25, the male sib also revealed abnormal levels of hepatic enzymes, presumably in relation ...

Last Updated: 22 Aug 2006

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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 type 3" 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.