Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Classic hemochromatosis
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* This condition is not a rare disease. It is a condition about which the GARD Information Center has received a question.

Hemochromatosis classic *
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Hemochromatosis classic 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.[1] Hemochromatosis classic is the most common cause of hereditary hemochromatosis. Symptoms of this condition typically begin in adulthood. It is caused by mutations in the HFE gene.[2]

Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance.[2] To learn more about other types of hereditary hemochromatosis click on the disease names below:

Hemochromatosis type 2
Hemochromatosis type 3
Hemochromatosis type 4

There is also an acquired and neonatal form of hemochromatosis.

Hemochromatosis acquired
Neonatal hemochromatosis



References
  1. Hemochromatosis. The National Heart, Lung, and Blood Institute (NHLBI). Available at: http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_whatis.html. Accessed July 9, 2009.
  2. Hemochromatosis. Genetic Home Reference. 2006 Available at: http://ghr.nlm.nih.gov/condition=hemochromatosis . Accessed July 9, 2009.

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For more information about Hemochromatosis classic click on the boxes below:
More Detailed Information NLM Gateway Services Support Groups Clinical Trials & Research
 
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • You can obtain comprehensive information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States. Click on the link to read information on this condition.
    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • Genetics Home Reference (GHR) contains a condition summary on Hemochromatosis classic. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hemochromatosis classic. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemochromatosis classic. Click on the link to view a sample search on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 
Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
 Umbrella Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 5 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Hemochromatosis classic. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
      Link: http://projectreporter.nih.gov/reporter.cfm

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