This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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:
For more information, visit GARD.