Hemochromatosis type 3

Common Name(s)

Hemochromatosis type 3

Hemochromatosis type 3 is a disease in which too much iron builds up in the body.  This extra iron is toxic to the body and can damage the organs. Symptoms of hemochromatosis type 3 generally begin before age 30. It is inherited in an autosomal recessive manner and is caused by mutations in the TFR2 gene.

Hemochromatosis may be aquired or inherited. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about these types click on the disease names below:

Hemochromatosis type 1
Hemochromatosis type 2
Hemochromatosis type 4

There is also a neonatal form of hemochromatosis:

Neonatal hemochromatosis

 

Advocacy and 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.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.