Hemochromatosis type 1

What causes hemochromatosis type 1?

Hemochromatosis type 1 is caused by genetic changes (mutations or pathogenic variants) in the HFE __gene. The HFE gene provides the body with instructions to make a protein that is located on the surface of cells. This protein helps detect the amount of iron in the body to determine how much iron should be absorbed from the diet. Pathogenic variants in the HFE gene cause these proteins to not be able to correctly tell the body how much iron to absorb. This causes iron to accumulate in tissues and organs, which can result in organ damage.

Last updated on 05-01-20

How is hemochromatosis type 1 inherited?

Hemochromatosis type 1 is inherited in an autosomal recessive manner. This means that people with hemochromatosis type 1 have a genetic change (mutation or pathogenic variant) in both copies of the HFE __gene in each cell of the body. We inherit one copy of every gene from our mother and the other from our father. The parents of a person with hemochromatosis type 1 are each expected to have one changed copy of the HFE gene. People with one changed copy of a gene are known as carriers. Carriers typically do not have signs or symptoms of hemochromatosis type 1.

When two carriers of hemochromatosis type 1 have children, each child has a:

  • 25% chance to have hemochromatosis type 1
  • 50% chance to be a carrier like each parent
  • 25% chance to have two working copies of the HFE gene, meaning the child is unaffected and is not a carrier of hemochromatosis type 1

Hemochromatosis type 1 is a disease that shows reduced penetrance. This means that some people with pathogenic variants in the HFE gene never show symptoms of the disease. However, children or other family members who have pathogenic variants causing hemochromatosis may show symptoms of the disease.

Last updated on 05-01-20

How might hemochromatosis type 1 be treated?

Treatment for hemochromatosis type 1 may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease. The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, and maintain normal amounts of iron throughout the lifetime.

Phlebotomy helps to remove excess iron from the body. Most people begin treatment with weekly therapeutic phlebotomy, although sometimes treatment is initially twice a week if iron levels are very elevated. Maintenance phlebotomy usually involves treatment every 2-4 months. Iron chelation therapy may be recommended for some people with hemochromatosis type 1 if they have other health issues. This involves removing excess iron using medications.

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
Arlington, VA, 22202, United States
Toll Free: 1–800–DIABETES (342–2383) Fax : 703–549–6995 Email: AskADA@diabetes.org Url: http://www.diabetes.org
Name: Iron Disorders Institute Inc. P.O. Box 4891
Greenville, SC, 29608, United States
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
New York, NY, 10006, United States
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/
How is Hemochromatosis Treated? National Heart, Lung, and Blood Institute. 2/2011; Reference Link

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