Hemochromatosis is a group of genetic disorders that cause the body to absorb too much iron as it digests food. This excess iron is stored in several of the body’s organs and can eventually cause damage. The iron build up can cause cancer, diabetes, irregular heartbeats (arrhythmia), and permanent scarring of the liver (cirrhosis). There are several types of hemochromatosis. The disorder is usually caused by altered (mutated) genes inherited from both parents (autosomal recessive), but in rare cases can be caused by a dominant gene from one parent. Hemochromatosis can also be non-hereditary, but in this case it is usually caused by another condition such as anemia, liver disease or an infection.
Common symptoms include joint pain, fatigue, weakness, bronzed skin, diabetes, or heart failure. In men, hemochromatosis may cause loss of sex drive (low libido) or impotence. Symptoms often appear in midlife and more serious symptoms occur more often in men. Women who develop the disease have usually already gone through menopause. Hemochromatosis is the most common hereditary disease among the Caucasian population. There are juvenile and newborn forms as well.
For many people, the only symptom is a high level of iron in the blood, which can make forming a diagnosis challenging. Two types of blood tests may be done to diagnose the disorder. To confirm the diagnosis, other tests may include an MRI and liver biopsy. There are treatments available to manage the disorder. Research is ongoing, so talk with your doctor and specialists about the most current treatment options. A genetic counselor can help you understand how the disease runs in families and options for genetic testing. Support groups are also a good source of information and can connect you with others living with hemochromatosis.