Hereditary hemochromatosis

Common Name(s)

Hereditary hemochromatosis

Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by {69:Feder et al., 1996}). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3. {2:Adams and Barton (2007)} reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of Hemochromatosis At least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A ({602390}), caused by mutation in the HJV gene ({608374}) on chromosome 1q21, and HFE2B ({613313}), caused by mutation in the HAMP gene ({606464}) on chromosome 19q13. Hemochromatosis type 3 (HFE3; {604250}), an autosomal recessive disorder, is caused by mutation in the TFR2 gene ({604720}) on chromosome 7q22. Hemochromatosis type 4 (HFE4; {606069}), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene ({604653}) on chromosome 2q32. Hemochromatosis type 5 (HFE5; {615517}) is caused by mutation in the FTH1 gene ({134770}) on chromosome 11q12.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hereditary hemochromatosis" for support, advocacy or research.

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

 

 

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 "Hereditary hemochromatosis" for support, advocacy or research.

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

 

 

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 "Hereditary hemochromatosis" returned 111 free, full-text research articles on human participants. First 3 results:

Screening for feature genes associated with hereditary hemochromatosis and functional analysis with DNA microarrays.
 

Author(s): J Wang, X Zhou, J Zhao, Z Li, X Li

Journal:

 

The aim of this study was to identify feature genes that are associated with hereditary hemochromatosis (HHC; iron overload) in cardiac and skeletal muscle of mice. First, the expression profile GSE9726 was downloaded from Gene Expression Omnibus database which included 12 samples. ...

Last Updated: 16 Dec 2013

Go To URL
Paraoxonase-1 status in patients with hereditary hemochromatosis.
 

Author(s): Nicola Martinelli, Anabel García-Heredia, Helena Roca, Núria Aranda, Victoria Arija, Bharti Mackness, Michael Mackness, Fabiana Busti, Gerard Aragonès, Juan Pedro-Botet, Federica Pedica, Ivana Cataldo, Judit Marsillach, Jorge Joven, Domenico Girelli, Jordi Camps

Journal: J. Lipid Res.. 2013 May;54(5):1484-92.

 

Hereditary hemochromatosis (HH) is characterized by accumulation of iron, oxidative stress, inflammation, and fibrogenesis in liver tissue. In this setting, research on the protection afforded by intracellular antioxidants is of clinical relevance. Paraoxonase-1 (PON1) is an enzyme ...

Last Updated: 10 Apr 2013

Go To URL
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.
 

Author(s): Farhad Zamani, Zohreh Bagheri, Maryam Bayat, Seyed-Mohammad Fereshtehnejad, Ali Basi, Hossein Najmabadi, Hossein Ajdarkosh

Journal: Med. Sci. Monit.. 2012 Oct;18(10):CR622-9.

 

Hereditary hemochromatosis (HH) is the most common autosomal recessive disorder in white people, characterized by highly abnormal uptake of iron from the gastrointestinal tracts. Recently, mutation studies have focused to detect the genes responsible for HH.

Last Updated: 28 Sep 2012

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 "Hereditary hemochromatosis" returned 21 free, full-text review articles on human participants. First 3 results:

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
Hereditary hemochromatosis and transferrin receptor 2.
 

Author(s): Juxing Chen, Caroline A Enns

Journal: Biochim. Biophys. Acta. 2012 Mar;1820(3):256-63.

 

Multicellular organisms regulate the uptake of calories, trace elements, and other nutrients by complex feedback mechanisms. In the case of iron, the body senses internal iron stores, iron requirements for hematopoiesis, and inflammatory status, and regulates iron uptake by modulating ...

Last Updated: 20 Feb 2012

Go To URL

Last Updated: 12 Jan 2010

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis
 

Status: Not yet recruiting

Condition Summary: Myocardial Iron Overload; HFE-Associated Hereditary Hemochromatosis

 

Last Updated: 23 Jul 2014

Go to URL
Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 27 Jul 2007

Go to URL
Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 4 Apr 2014

Go to URL