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Hemochromatosis

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Hope Through Research

Scientists hope further study of the HFE gene will reveal how the body normally metabolizes iron.

They also want to learn how iron injures cells and contributes to organ damage in other diseases, such as alcoholic liver disease, hepatitis C, porphyria cutanea tarda, heart disease, reproductive disorders, cancer, autoimmune hepatitis, diabetes, and joint disease.

Scientists are working to find out why only some patients with HFE mutations develop the disease. In addition, hemochromatosis research includes the following areas:

Genetics. Researchers are examining how the HFE gene normally regulates iron levels and why not everyone with an abnormal pair of genes develops the disease.

Pathogenesis. Scientists are studying how iron injures body cells. Iron is an essential nutrient, but above a certain level it can damage or even kill cells.

Epidemiology. Research is underway to explain why the amounts of iron people normally store in their bodies differ. Research is also being conducted to determine how many people with the defective HFE gene go on to develop symptoms and why some people develop symptoms and others do not.

Screening and Testing. Scientists are working to determine at what age testing is most effective, which groups should be tested, and which are the best tests for widespread screening.

For More Information About Hemochromatosis

American Hemochromatosis Society, Inc.
4044 West Lake Mary Boulevard
Unit #104 PMB 416
Lake Mary, FL 32746-2012
Phone: 1-888-655-IRON (4766) or 407-829-4488
Fax: 407-333-1284
Email: mail@americanhs.org
Internet: www.americanhs.org

American Liver Foundation
75 Maiden Lane, Suite 603
New York, NY 10038-4810
Phone: 1-800-GO-LIVER (465-4837), 1-888-443-7872, or 212-668-1000
Fax: 212-483-8179
Email: info@liverfoundation.org
Internet: www.liverfoundation.org

Iron Disorders Institute
2722 Wade Hampton Boulevard, Suite A
Greenville, SC 29615
Phone: 1-888-565-IRON (4766) or 864-292-1175
Fax: 864-292-1878
Email: patientservices@irondisorders.org
Internet: www.irondisorders.org

National Organization for Rare Disorders, Inc.
55 Kenosia Avenue
P.O. Box 1968
Danbury, CT 06813-1968
Phone: 1-800-999-6673 or 203-744-0100
Fax: 203-798-2291
Email: orphan@rarediseases.org
Internet: www.rarediseases.org

National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Phone: 1-800-891-5389
TTY: 1-866-569-1162
Fax: 703-738-4929
Email: nddic@info.niddk.nih.gov
Internet: www.digestive.niddk.nih.gov


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References:
National Digestive Diseases Information Clearinghouse (NDDIC)
April 2007
digestive.niddk.nih.gov

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