Haemochromatosis – Causes and Symptoms of Haemochromatosis
Haemochromatosis is the most common form of iron overload disease. It is a genetic condition that causes people to absorb excess amounts of iron. The excess iron stores up in the organs, such as pancreas, heart and liver and destroys them. The affected organs may fail without proper treatment. Iron is a part of hemoglobin that transports oxygen from lungs to all the body tissues. It is an essential nutrient found in many foods such as meat, bread, cereals, etc.
Generally, healthy people absorb 10% of iron from the food they eat for their body needs. But people with haemochromatosis absorb up to 30% of iron. The disease affects about 1 in 400 people on an average. The incidence of the disease is more common in the United States.
Causes of Haemochromatosis
Haemochromatosis is caused as a result of mutation in a gene called HFE, that helps to regulate the iron absorption from the food. There are two mutations in HFE called H63D and C282Y. The mutation C282Y causes more iron absorption and the mutation HFE causes little iron absorption. Haemochromatosis can develop in a person when C282Y mutation is inherited from both the parents. Rarely, the person may develop haemochromatosis if one parent has C282Y mutation and the other has H63D mutation.
There are two additional forms of haemochromatosis namely, neonatal and juvenile haemochromatosis. Neonatal form causes severe iron buildup in the infant’s liver that leads to death. Juvenile form causes severe iron buildup in the heart and liver of young adults between ages 15 to 30. The cause for these two forms is unknown.
Men are more likely to inherit the disorder than women. Women are less prone because they lose iron regularly during the menstrual cycles.
Symptoms of Haemochromatosis
Symptoms do not appear during birth. They appear rarely before the adulthood. Symptoms tend to occur in women over the age 50 and in men between the ages 30 to 50. The signs and symptoms of haemochromatosis include:
- Joint pains
- Heart problems
- Abdominal pain
- Lack of energy
The disease should be detected early and treated or else the iron accumulates in the tissues of the body leading to serious disease conditions such as:
- Damage to adrenal gland
- Thyroid deficiency
- Gray or bronze colored pigmentation of the skin
- Early menopause
- Heart abnormalities, such as congestive heart failure or heart rhythms
- Damage to pancreas causing diabetes
- Liver disease that includes liver failure, cancer, cirrhosis, enlarged liver