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Ferroportin Disease

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Ferroportin Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • hemochromatosis type 4
  • SLC40A1-related hereditary hemochromatosis

Disorder Subdivisions

  • None

General Discussion

Ferroportin disease, also known as hemochromatosis type 4, is a rare genetic disorder characterized by the abnormal accumulation of iron in the body. Ferroportin disease is caused by mutations of the SLC40A1 gene. The specific symptoms associated with ferroportin disease can vary greatly from one person to another. Some individuals may only have elevated levels of ferritin, a protein that binds to iron and is used as an indicator of the body's iron stores in the blood plasma. Other individuals may develop symptoms similar to classic hereditary hemochromatosis

Ferroportin disease is classified as an iron overload disorder, a group of disorders characterized by the abnormal accumulation of iron in the body. It is a separate, distinct disorder from classic hereditary hemochromatosis. Ferroportin disease is caused by mutations in a different gene and is inherited in a different manner from other forms of hemochromatosis.

Resources

Iron Overload Diseases Association, Inc.
525 Mayflower Road
West Palm Beach, Fl 33405
Tel: (561)586-8246
Fax: (561)842-9881
Tel: (866)768-8629
Email: iod@ironoverload.org
Internet: http://ironoverload.org

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Tel: (301)496-3583
Email: NDDIC@info.niddk.nih.gov
Internet: http://www2.niddk.nih.gov/

Canadian Hemochromatosis Society
7000 Minoru Boulevard Suite 285
Richmond
British Columbia, V6Y 3Z5
Canada
Tel: 6042797135
Fax: 6042797138
Tel: 8772234766
Email: office@toomuchiron.ca
Internet: http://www.toomuchiron.ca

American Hemochromatosis Society
4044 W. Lake Mary Blvd.
Suite 104 PMB 416
Lake Mary, FL 32746-2012
USA
Tel: (407)829-4488
Fax: (407)333-1284
Tel: (888)655-4766
Email: mail@americanhs.org
Internet: http://www.americanhs.org

Iron Disorders Institute
PO Box 675
Taylors, SC 29687
USA
Tel: (864)292-1175
Fax: (864)292-1878
Tel: (888)565-4766
Email: info@irondisorders.org
Internet: http://www.irondisorders.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/27/2013
Copyright  2010, 2013 National Organization for Rare Disorders, Inc.

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