Hemochromatosis

Common Name(s)

Hemochromatosis

Hemochromatosis 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. Early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.

Hemochromatosis may be acquired or hereditary. 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 the specific types of hereditary hemochromatosis click on the disease names below:

Hemochromotosis type 1
Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4

There is also a neonatal form of hemochromatosis:

Neonatal hemochromatosis
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemochromatosis" 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.

Last Updated: 21 Dec 2012

View Details
Logo
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: 4 Oct 2012

View Details
Iron Disorders Institute

Reducing pain, suffering and unnecessary death due to disorders of iron through awareness, education and research.

Last Updated: 4 Jan 2013

View Details

 

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 "Hemochromatosis" 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: 21 Dec 2012

View Details
Logo
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: 4 Oct 2012

View Details
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: 4 Jan 2013

View Details

 

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 "Hemochromatosis" returned 408 free, full-text research articles on human participants. First 3 results:

Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44,809 participants of the HEIRS study.
 

Author(s): Andrew Lim, Mark Speechley, Paul C Adams

Journal: Can J Gastroenterol Hepatol. 2014 Oct;28(9):502-4.

 

The simultaneous interpretation of serum ferritin level and transferrin saturation has been used as a clinical guide to diagnose genetic hemochromatosis. The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 North American participants for serum ferritin level ...

Last Updated: 15 Oct 2014

Go To URL
Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome.
 

Author(s): Xianbo Wang, Yanmin Liu, Yujuan Chang, Huimin Liu, Peng Wang

Journal:

 

Gilbert's syndrome and hereditary hemochromatosis predominantly affect Caucasians with a low incidence in Asians. Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. After excluding ...

Last Updated: 6 Oct 2014

Go To URL
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.
 

Author(s): Serena Pelusi, Raffaela Rametta, Claudia Della Corte, Riccardo Congia, Paola Dongiovanni, Edoardo A Pulixi, Silvia Fargion, Anna L Fracanzani, Valerio Nobili, Luca Valenti

Journal: Ann Hepatol. ;13(5):568-71.

 

Juvenile hemochromatosis (JH) is a rare autosomal recessive disorder characterized by severe early-onset iron overload, caused by mutations in hemojuvelin (HJV), hepcidin (HAMP), or a combination of genes regulating iron metabolism. Here we describe two JH cases associated with simple ...

Last Updated: 26 Aug 2014

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 "Hemochromatosis" returned 56 free, full-text review articles on human participants. First 3 results:

Hemochromatosis: the new blood donor.
 

Author(s): Susan F Leitman

Journal: Hematology Am Soc Hematol Educ Program. 2013 ;2013():645-50.

 

Hereditary hemochromatosis (HH) due to homozygosity for the C282Y mutation in the HFE gene is a common inherited iron overload disorder in whites of northern European descent. Hepcidin deficiency, the hallmark of the disorder, leads to dysregulated intestinal iron absorption and progressive ...

Last Updated: 9 Dec 2013

Go To URL
Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review.
 

Author(s): Diego Moretti, Gerrigje M van Doorn, Dorine W Swinkels, Alida Melse-Boonstra

Journal: Am. J. Clin. Nutr.. 2013 Aug;98(2):468-79.

 

Hereditary hemochromatosis (HH) leads to iron loading because of a disturbance in the negative-feedback mechanism between dietary iron absorption and iron status. The management of HH is achieved by repeated phlebotomies.

Last Updated: 22 Jul 2013

Go To URL
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
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 22 Jan 2015

Go to URL
Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis
 

Status: Recruiting

Condition Summary: Hemochromatosis

 

Last Updated: 27 Jul 2007

Go to URL
Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome
 

Status: Recruiting

Condition Summary: Hemochromatosis; Myelodysplastic Syndromes

 

Last Updated: 1 Jul 2013

Go to URL