Symptoms & Causes of Hemochromatosis

What are the symptoms of hemochromatosis?

With the buildup of harmful levels of iron, hemochromatosis can cause symptoms including

• feeling tired or weak
• pain in the joints, particularly in the knees and hands
• loss of interest in sex or erectile dysfunction
• pain in the abdomen over the liver
• darkening of skin color, which may appear gray, metallic, or bronze

With more severe iron overload, people may develop signs and symptoms of complications, such as cirrhosis, diabetes, or heart failure.

Not everyone with hemochromatosis has symptoms, and hemochromatosis may not cause symptoms for many years. Symptoms typically begin after age 40, and, on average, women develop symptoms about 10 years later than men do.5,6

What causes hemochromatosis?

Primary hemochromatosis

Mutations in genes that control how the body absorbs iron cause primary hemochromatosis. The most common mutations are in the HFE genes and are called C282Y and H63D.

The important HFE mutations are autosomal recessive, meaning that a person must inherit two copies of the HFE gene with the mutation to have hemochromatosis. The most common pattern in primary hemochromatosis occurs with two copies of C282Y. Two copies of C282Y are present in about 85 to 90 percent of cases of primary hemochromatosis.6 A less common pattern that leads to milder iron overload is caused by having one copy of C282Y and one of H63D.

Mutations in other genes that control how the body manages iron levels cause 10 to 15 percent of cases of primary hemochromatosis.3 These rare forms are called non-HFE hemochromatosis. The most severe forms of non-HFE hemochromatosis are due to mutations in the HJV genes or the HAMP genes. People with these mutations develop symptoms and complications at a young age and may have cirrhosis and other complications from iron overload by their teenage years.

Secondary hemochromatosis

Secondary hemochromatosis is caused by excessive iron in the diet or from multiple blood transfusions.

The usual cause of secondary hemochromatosis is blood transfusions given for severe types of anemia, such as sickle cell disease or thalassemias. In addition, people with bone marrow failure and severe anemia may require regular blood transfusions given over months or years. Red blood cells are a rich source of iron, and red blood cells given by transfusions can lead to a buildup of iron to high levels. The body does not have a good way to get rid of iron.

In the past, iron overload was a common problem in people with kidney failure. However, the use of erythropoietin (EPO) to treat anemia in chronic kidney disease in people with kidney failure has lessened the chance of iron overload. EPO helps the body make red blood cells, lowering levels of stored iron and reducing the need for blood transfusions.

Iron overload in the liver also occurs in persons with severe liver disease such as cirrhosis due to alcoholic liver disease or advanced forms of chronic hepatitis B or C. In these situations, the level of iron is high enough to worsen the underlying liver disease.

Iron overload from excess iron in the diet is very rare but can be caused by cooking and brewing alcohol in crude iron pots or skillets. Drinking alcohol in this situation leads to an increase in the absorption of iron and can cause serious iron overload in the liver.

Neonatal hemochromatosis

Neonatal hemochromatosis is a very rare disease that leads to cirrhosis and liver failure in newborns. In most cases, neonatal hemochromatosis occurs when a pregnant woman’s immune system produces antibodies that damage the liver of a fetus, causing iron overload.

A woman who has one child with neonatal hemochromatosis is at risk for having a second or third affected newborn. Doctors can treat women during future pregnancies to help prevent neonatal hemochromatosis.

References

[5] Crownover BK, Covey CJ. Hereditary hemochromatosis. American Family Physician. 2013;87(3):183–190.

[6] Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS; American Association for the Study of Liver Diseases. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54(1):328–343.

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