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.
 

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Condition Specific Organizations

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

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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 "Hereditary hemochromatosis" returned 137 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

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Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis.
 

Author(s): Martha-Spyridoula Katsarou, Rosana Latsi, Maria Papasavva, Nikolaos Demertzis, Thodoris Kalogridis, Aristides M Tsatsakis, Demetrios A Spandidos, Nikolaos Drakoulis

Journal: Mol Med Rep. 2016 Jul;14(1):630-6.

 

Hereditary hemochromatosis (HH) is an autosomal recessive genetic disease, characterized by increased dietary iron absorption. Due to the absence of an effective excretory mechanism, the excess iron in the body may accumulate resulting in toxic effects. The HFE gene also affects the ...

Last Updated: 18 Jun 2016

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Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients.
 

Author(s): Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin

Journal: Turk J Haematol. 2016 Dec;33(4):320-325.

 

Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment ...

Last Updated: 20 Apr 2016

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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 "Hereditary hemochromatosis" returned 20 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

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.
 

Author(s): Paulo C J L Santos, Jose E Krieger, Alexandre C Pereira

Journal: Int J Mol Sci. 2012 ;13(2):1497-511.

 

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by enhanced intestinal absorption of dietary iron. Without therapeutic intervention, iron overload leads to multiple organ damage such as liver cirrhosis, cardiomyopathy, diabetes, arthritis, hypogonadism ...

Last Updated: 12 Mar 2012

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 28 Jun 2017

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Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 30 Jun 2017

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

Status: Recruiting

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

 

Last Updated: 11 Jul 2016

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