Hemochromatosis type 2

What causes hemochromatosis type 2?

Hemochromatosis type 2 is caused by genetic changes (mutations or pathogenic variants) in the HFE2 __ (also known as HJV) or HAMP genes. The HAMP gene provides instructions to the body to make a protein called hepcidin. Hepcidin controls iron absorption in the small intestine. Pathogenic variants in the HAMP gene cause hepcidin to not be able to limit iron absorption when there is already too much iron in the body. The HFE2 ( HJV ) gene is thought to provide instructions to the body to help regulate hepcidin. Pathogenic variants in the HFE2 ( HJV) gene, cause this protein to not be able to regulate hepcidin. Therefore, pathogenic variants in either of these genes cause iron to accumulate in tissues and organs, which can result in organ damage.

Last updated on 05-01-20

How is hemochromatosis type 2 inherited?

Hemochromatosis type 2 is inherited in an autosomal recessive manner. This means that people with hemochromatosis type 2 have a genetic change (mutation or pathogenic variant) in both copies of the HFE2 __ ( HJV ) or HAMP genes 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 2 are expected to each have one changed copy of a gene causing hemochromatosis type 2. People with one changed copy of a gene are known as carriers. Carriers typically do not have signs or symptoms of hemochromatosis type 2.

When two carriers of hemochromatosis type 2 have children, each child has a:

  • 25% chance to have hemochromatosis type 2
  • 50% chance to be a carrier like each parent
  • 25% chance to have two working copies of the HFE2 ( HJV) and HAMP genes, meaning the child is unaffected and is not a carrier of hemochromatosis type 2

Last updated on 05-01-20

How might hemochromatosis type 2 be treated?

Treatment for hemochromatosis type 2 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 2 if they have other health issues. This involves removing excess iron using medications. The use of these therapies to treat hemochromatosis type 2 can greatly reduce the risk of organ damage.

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. Hormone replacement therapy may be used to replace low sex hormones.

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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Name: American Hemochromatosis Society, Inc. PO Box 950871
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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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