Hemochromatosis is a hereditary disorder that causes the body to absorb excess iron from food. The excess iron is stored in mainly in the liver, heart and pancreas. This can be toxic for the organs and increase the risk of life-threatening conditions such as cancer, cirrhosis or heart arrhythmias.
Hemochromatosis is the most common genetic disease in Caucasians; however, a small number of cases develop serious complications.
The symptoms of hemochromatosis appear in midlife. Removing blood from the body on a regular basis can regulate the excess iron in the blood.
Common symptoms of hemochromatosis include:
- Joint pain
Initial symptoms of the disease in men usually appear as a result of organ damage and include:
- Joint pain
- Loss of sex drive
- Heart failure
Hereditary hemochromatosis is present at birth but symptoms usually appear later in life. Women are more likely to experience symptoms after menopause because they no longer lose iron with menstruation or pregnancy.
Hereditary hemochromatosis is caused by a mutation of the gene that regulates the amount of iron absorbed by the body. The genetic mutation is passed on from parents to children. The gene mutation of hereditary hemochromatosis involves the HFE gene, which has 2 common mutations, C282Y and H63D. One of the gene mutations is found in most cases of hereditary hemochromatosis.
Hereditary hemochromatosis requires 2 abnormal genes, which are inherited from both parents while one abnormal gene makes the person a carrier of the genetic mutation.
Other types of hemochromatosis
- Juvenile hemochromatosis: This disorder is caused by a mutation in the HJV gene and causes the same symptoms of hereditary hemochromatosis in young people aged between 15 and 30.
- Neonatal hemochromatosis: Neonatal hemochromatosis is considered a severe autoimmune disorder causing rapid accumulation of iron in the liver of a developing fetus.
- Secondary hemochromatosis: Secondary hemochromatosis is not inherited but rather the accumulation of iron is a result of another disease such as chronic liver disease, an infection or anemia.
Risk factors for hereditary hemochromatosis include:
- 2 copies of a mutated HFE gene
- Family history of the disease
- Ethnicity (Northern European descent)
- Gender (males are more likely to develop symptoms)
Hereditary hemochromatosis can cause numerous symptoms if left untreated, including:
- Liver problems: Permanent scarring of the liver or cirrhosis can occur as a result of the disorder and may also lead to liver cancer or other complications.
- Pancreas problems: Damage to the pancreas can lead to diabetes.
- Heart problems: The excess iron in the heart causes difficulties for the heart to circulate enough blood. This is known as congestive heart failure. Hemochromatosis can also cause heart arrhythmias, which can lead to heart palpitations, chest pain and light-headedness.
- Reproductive problems: Excess iron can cause erectile dysfunction and loss of sex drive in men and absence of menstrual cycles in women.
- Skin color changes: Iron deposits in skin cells can cause for the skin to appear bronze or gray.