What causes hemochromatosis?

The cause of hemochromatosis depends on whether a person has a hereditary form, an acquired form, or the neonatal form.

Hereditary hemochromatosis is caused by genetic changes (mutations or pathogenic variants) in any of several genes:

These genes all provide the body with instructions to make proteins that help regulate how iron is absorbed from the diet, transported, and stored. Pathogenic variants in these genes cause changes in how iron is absorbed and distributed throughout the body. This causes iron to accumulate in tissues and organs, which can cause organ damage.

Acquired hemochromatosis is usually a symptom of other blood-related disorders such as thalassemia or certain anemias. Acquired hemochromatosis can also be caused by having many blood transfusions or long-term alcohol use.

The cause of neonatal hemochromatosis is not fully understood. However, a woman with an affected child has approximately an 80% chance to have another affected child. This form of hemochromatosis appears to run in families, but the exact cause is unknown.

Last updated on 05-01-20

Is hemochromatosis inherited?

Hereditary hemochromatosis is inherited in an autosomal recessive or autosomal dominant manner, depending on which type a person has.

Hemochromatosis types 1, 2, and 3 are inherited in an autosomal recessive manner. This means that people with these types of hemochromatosis have a genetic change (mutation or pathogenic variant) in both copies of a gene causing hemochromatosis 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 types 1, 2, or 3 are each expected to have one changed copy of the gene causing hemochromatosis. People with one changed copy of a gene are known as carriers. Carriers typically do not have signs or symptoms of hemochromatosis.

When two carriers of an autosomal recessive form of hemochromatosis have children, each child has a:

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

Hemochromatosis types 4 and 5 are inherited in an autosomal dominant manner. People with these types of hemochromatosis have one changed copy of the SLC40A1 gene or FTH1 genes. In most cases, people with these types of hemochromatosis inherit the genetic change from a parent who also has the disease. When a person with an autosomal dominant type of hemochromatosis has children, each child has a:

  • 50% to inherit hemochromatosis
  • 50% chance to be unaffected

Acquired hemochromatosis is not inherited and is not thought to run in families. Neonatal hemochromatosis is thought to run in families, but the exact cause is not well understood.

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

Last updated on 05-01-20

How might hemochromatosis be treated?

Treatment for hemochromatosis 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 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
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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
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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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