*Hemochromatosis type 1* 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. Early symptoms of hemochromatosis type 1 can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Symptoms of hemochromatosis type 1 typically begin between the ages of 40-60 years-old. Hemochromatosis type 1 is the most common type of hemochromatosis, and it affects more men than women.
Hemochromatosis type 1 is caused by genetic changes (mutations or pathogenic variants) to the HFE gene. The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 1is 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 1 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
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Rudimentary to absent tibiae|
|Sparse axillary hair|
|Decreased fertility in males|
|Aplasia of the ulna|
|Abnormal cornea morphology|
|Large foramen magnum|
|High, narrow palate|
|Severe short-limb dwarfism|
|Thinning of Descemet membrane|
|Autosomal recessive inheritance|
|Congestive heart failure|
|Elevated hepatic transaminase|
|Hyperpigmentation of the skin|
|Increased serum ferritin|
|Increased serum iron|
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
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:
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
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
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