Hemochromatosis type 4

What causes hemochromatosis type 4?

Hemochromatosis type 4 is caused by genetic changes (mutations or pathogenic variants) in the SLC40A1 gene. This gene provides the body with instructions to make a protein called ferroportin. Ferroportin helps transport iron throughout the body. Pathogenic variants in the SLC40A1 gene cause the ferroportin protein to allow the body to absorb too much iron. This causes iron to accumulate in different areas of the body, resulting in the signs and symptoms of hemochromatosis type 4.

Last updated on 05-01-20

How is hemochromatosis type 4 inherited?

Hemochromatosis type 4 is inherited in an autosomal dominant manner. This means that people with hemochromatosis type 4 have a genetic change (mutation or pathogenic variant) in one copy of the SLC40A1 gene in each cell of the body. We inherit one copy of every gene from our mother and the other from our father. In most cases, a person who has hemochromatosis type 4 inherited the pathogenic variant causing the disease from one of his or her parents.

When a person with hemochromatosis type 4 has children, each child has a:

  • 50% chance to inherit the pathogenic variant in the SLC40A1 gene
  • 50% chance to inherit the working copy of SLC40A1 , meaning he or she will not develop symptoms of hemochromatosis type 4

Hemochromatosis type 4 is a disease that shows reduced penetrance. This means that some people with pathogenic variants in the SLC40A1 gene never show symptoms of the disease. However, children or other family members who have pathogenic variants causing hemochromatosis type 4 may show symptoms of the disease.

Last updated on 05-01-20

How might hemochromatosis type 4 be treated?

Treatment for hemochromatosis type 4 depends on whether the affected person has hemochromatosis type 4A or hemochromatosis type 4B. People with hemochromatosis type 4B can be treated similarly to people who have other types of hemochromatosis. Treatment options may include reducing iron levels by removing blood (phlebotomy), iron chelation therapy, dietary changes, and treatment for complications of the disease.

Treatment for people with hemochromatosis type 4A typically does not involve phlebotomy. This is because people with hemochromatosis type 4A may develop low levels of red blood cells (anemia) if they receive phlebotomy treatments. Instead, people with hemochromatosis type 4A are closely monitored with blood tests to determine if they are having symptoms of the disease and how the disease may best be treated.

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/

Connect with other users with Hemochromatosis type 4 on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App