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Don’t fight Hemochromatosis type 2 alone.
Find your community on the free RareGuru App.Hemochromatosis type 2 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas.
Symptoms of hemochromatosis type 2 typically begin during childhood. Early symptoms of hemochromatosis type 2 typically include liver disease, heart disease, and low levels of sex hormones. Having low levels of sex hormones can cause women to stop having their monthly periods and men to have delayed puberty. People with hemochromatosis type 2 may have heart disease by age 30. Other symptoms may include abdominal pain, diabetes, and skin discoloration.
Hemochromatosis type 2 is caused by genetic changes (mutations or pathogenic variants) to the HFE2 ( HJV) or HAMP __ genes. The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 2 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing. Treatment of hemochromatosis type 2 usually involves reducing iron levels by removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage.
To learn more about other types of hemochromatosis click on the disease names below:
Source: GARD Last updated on 05-01-20
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
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:
Last updated on 05-01-20
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
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