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Hemochromatosis 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 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 typically begin between the ages of 40-60 years-old, but in some cases children may have symptoms of the disease.
Hemochromatosis may be hereditary, meaning it is caused by genetic changes (mutations or pathogenic variants) to any of several genes including FTH1 , HAMP , HFE , HFE2 (also known as HJV ), SLC40A1 , and TFR2. Hereditary hemochromatosis is classified by type based on age of onset, genetic cause, and mode of inheritance:
In other cases, hemochromatosis develops as a side-effect or symptom of another disease such as anemia, chronic liver disease, or an infection. This is called acquired hemochromatosis. When hemochromatosis develops in an infant and the exact cause of the disease cannot be determined, it is called neonatal hemochromatosis.
A diagnosis of hemochromatosis 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 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.
Source: GARD Last updated on 05-01-20
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
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:
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:
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
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
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