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 138 free, full-text research articles on human participants. First 3 results:

Fatal Cardiac Hemochromatosis in a Patient with Hereditary Spherocytosis.
 

Author(s): Takeo Fujino, Shujiro Inoue, Shunsuke Katsuki, Taiki Higo, Tomomi Ide, Yoshinao Oda, Hiroyuki Tsutsui

Journal: Int Heart J. 2018 Mar;59(2):427-430.

 

A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple ...

Last Updated: 31 Dec 1969

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Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the and genes.
 

Author(s): K Sigvard Olsson, Olof Wålinder, Ulf Jansson, Maria Wilbe, Marie-Louise Bondeson, Eva-Lena Stattin, Ruma Raha-Chowdhury, Roger Williams

Journal:

 

Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper ...

Last Updated: 31 Dec 1969

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Beyond Human Leukocyte Antigen Class I Antigens: Hereditary Hemochromatosis Gene Mutations in Recurrent Aphthous Oral Ulcers and Behçet Disease in the South of Tunisia.
 

Author(s): Sahar ElAoud, Arwa Kamoun, Nadia Mahfoudh, Aida Charfi, Mouna Snoussi, Hend Hachicha, Ameni Jerbi, Chifa Dammak, Feten Frikha, Faiza Hakim, Lilia Gaddour, Zouheir Bahloul, Hafedh Makni

Journal: Med Princ Pract. 2017 ;26(5):427-432.

 

The aim of this work was to establish human leukocyte antigen (HLA) class I and hereditary hemochromatosis gene (HFE) mutation associations with recurrent aphthous oral ulcers (RAOU) and Behçet disease (BD) in a cohort of Southern Tunisian patients.

Last Updated: 31 Dec 1969

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

Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
 

Author(s): Wei Zhang, Tingxia Lv, Jian Huang, Xiaojuan Ou

Journal: Medicine (Baltimore). 2017 Sep;96(38):e8064.

 

Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis
 

Status: Recruiting

Condition Summary: Hereditary Hemochromatosis

 

Last Updated: 24 Jul 2018

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Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 3 Nov 2018

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