Hereditary Hemochromatosis
A Disorder that Leads to Iron Overload in the Body
The mutations that cause Hereditary Hemochromatosis lead to problems with iron storage in the body and can injure your heart, pancreas, liver and joints.
For people of Northern European descent, especially Celtic, hereditary hemochromatosis is the most commonly found inherited single gene mutation. The disorder is characterized by problems with iron storage and transport in the body. Iron deposition in various organs can lead to a number of different clinical syndromes. For many patients, the easiest and most effective treatment is donating blood.
What Causes Hemochromatosis
Hemochromatosis can be either primary or secondary. Primary, or hereditary, hemochromatosis occurs most frequently because of a mutation in a gene known as HFE. The protein produced by this gene plays a critical role in the body’s ability to transport and store iron by interacting with the receptor for the iron transport protein known as transferrin. Secondary hemochromatosis occurs as a result of other disorders such as chronic alcoholism.
What Kind of Damage is Caused by Hemochromatosis
Once the body develops problems with iron storage and overload, there are a number of organs that can be affected. Iron deposition can lead to damage of the heart muscle, the liver, the joints, and the pancreas amongst others. People with iron overload in these tissues can have heart failure, arrhythmias, diabetes, cirrhosis and a form of arthritis. People with untreated hemochromatosis can also have problems with fertility and with being routinely fatigued.
How is Hemochromatosis Treated
The most useful approach to limit iron overload from hemochromatosis is to undergo phlebotomy, or blood donation, on a regular basis. For pre-menopausal women, the symptoms of hemochromatosis may not develop for years because of the normal pattern of blood and iron loss associated with menstruation. For men with the disorder, early identification and phlebotomy are the only way to limit the damage that the disorder can cause.
How Do You Know if You Have Hemochromatosis
Given the high incidence of the mutation in people of Northern European extraction, hereditary hemochromatosis is the most commonly detected, single gene, genetic disorder. It has been estimated that as many as 1 in 10 people of Celtic origin may carry one copy of the mutated gene. It only occurs when both copies of the gene are mutated. Given the propensity for iron overload to cause diabetes, and the fact that people with hereditary hemochromatosis and diabetes have been referred to as having “bronze diabetes” because of discoloration of the skin due to iron storage, some have suggested that all people with diabetes be screened for hemochromatosis. Measurements of total iron binding capacity in the blood and transferrin saturation can be used to infer if hemochromatosis is a possible diagnosis.
If you have a parent or sibling or other blood relative with hereditary hemochromatosis, talk to your doctor about getting tested. The treatment is simple and the positive effects are much better than the negative consequences.
To learn more visit:
http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm
