Hemochromatosis type 5

What causes hemochromatosis type 5?

Hemochromatosis type 5 is caused by genetic changes (mutations or pathogenic variants) in the FTH1 gene. This gene provides the body with instructions to make a protein called ferritin. Ferritin is a protein that is made of many parts (subunits), and its function is to help store iron in the body. When there are changes in the FTH1 gene, ferritin does not store the appropriate amount of iron in the body. This causes iron to accumulate in different areas of the body, resulting in the signs of hemochromatosis type 5.

Last updated on 05-01-20

How is hemochromatosis type 5 inherited?

Hemochromatosis type 5 is inherited in an autosomal dominant manner. This means that people with the disease have a genetic change (mutation or pathogenic variant) in one copy of the FTH1 gene in each cell of the body. We inherit one copy of every gene from our mother and the other from our father.

When a person with hemochromatosis type 5 has children, each child has a:

  • 50% chance to inherit the pathogenic variant in the FTH1 gene
  • 50% chance to inherit the working copy of FTH1 , meaning he or she will not develop symptoms of hemochromatosis type 5

Last updated on 05-01-20

How might hemochromatosis type 5 be treated?

The treatment options for hemochromatosis type 5 may depend on the signs or symptoms that each person has. The family with this disease that has been reported in the medical literature did not have symptoms of the disease. For people who do not have symptoms of hemochromatosis type 5, treatment may not be necessary. Doctors may wish to monitor these people with blood tests to make sure iron levels do not become too high. This management is used for people who have other types of asymptomatic hemochromatosis.

If a person with hemochromatosis type 5 has symptoms of the disease, a doctor may recommend treatments that are used in other types of symptomatic hemochromatosis. Treatment options may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease.

Dietary recommendations for people with hemochromatosis may include avoiding alcohol and red meat. People with hemochromatosis are not recommended to take iron or vitamin C supplements.

For more detailed information regarding the treatment of hemochromatosis, please reference the Medscape article about hemochromatosis. You may need to register to view the article, but registration is free.

Last updated on 05-01-20

Name: American Diabetes Association 2451 Crystal Drive Suite 900
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Name: Iron Disorders Institute Inc. P.O. Box 4891
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Fax : 864-292-1878 Email: info@irondisorders.org Url: http://www.irondisorders.org/
Name: American Hemochromatosis Society, Inc. PO Box 950871
Lake Mary, FL, 32795, United States
Phone: 407–829–4488 Toll Free: 1–888–655–IRON (4766) Fax : 407–333–1284 Email: mail@americanhs.org Url: http://www.americanhs.org
Name: American Liver Foundation 39 Broadway, Suite 2700
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Phone: +1-212-668-1000 Toll Free: +1-800-465-4837 (Helpline) Email: https://liverfoundation.org/for-patients/contact-us/ Url: https://liverfoundation.org/
Name: Haemochromatosis Australia PO Box 6185
Meridian Plains Qld, 4551, Australia
Phone: 1300 019 028 Email: https://haemochromatosis.org.au/contact-us/ Url: https://haemochromatosis.org.au/
Name: Canadian Hemochromatosis Society 7000 Minoru Boulevard Suite 285
Richmond British Columbia, V6Y 3Z5 , Canada
Phone: (604) 279-7135 Toll Free: (877) 223-4766 Email: office@toomuchiron.ca Url: http://www.toomuchiron.ca
Name: Haemochromatosis Society PO Box 6356
Rugby Warwickshire , CV21 9PA, United Kingdom
Phone: 03030 401 101 Email: helpline@ironoverload.org.uk,office@ironoverload.org.uk Url: http://haemochromatosis.org.uk/

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