According to the CDC, hemochromatosis (HH) is the most prevalent genetic disorder in the United States. It is an iron-overload disease, also know as "genetic iron poisoning." If left untreated, the accumulating iron can damage vital organs and joints, which may result in various life-threatening diseases. Because of the disease's progressive nature, HH is more typical in people ages 40 and above.
There are two types of hemochromatosis: hereditary, which is the most common, and acquired.
Symptoms
- Fatigue
- Weakness
- Joint pain
- Weight loss
- Abdominal pain
- Decreased sexual drive
- Change in skin color
- Arthralgia
- Arthritis (as iron continues to build up)
Hereditary hemochromatosis* (HH) is a genetic disease that alters the body's ability to regulate iron absorption. If correctly diagnosed, HH is easily and effectively treated, but if untreated, it can lead to severe organ damage. Caucasians of northern European descent are at highest risk. An estimated one million people in the United States have hereditary hemochromatosis.
HH causes the body to absorb too much iron. Normally humans extract needed iron from food via the intestines. When there is an adequate amount of iron, the body reduces its absorption to avoid excessive accumulations. In a person with HH, the mechanism for regulating iron absorption is faulty and the body absorbs too much iron.
Over time - several years - this excess iron is deposited in the cells of the liver, heart, pancreas, joints and pituitary gland, leading to diseases such as cirrhosis of the liver, liver cancer, diabetes, heart disease and joint disease.
The gene that causes hereditary hemochromatosis, called HFE, was identified on chromosome 6 in 1996. Most cases of HH result from a common mutation in this gene, known as C282Y. But other mutations that cause this disease have also been identified, including one known as H63D.
A child who inherits two copies of a mutated gene (one from each parent) is highly likely to develop the disease. However, not all people who have two mutated copies develop signs and symptoms of HH.
People who inherit only one copy of the mutated gene are carriers, but usually have no symptoms, or have very mild symptoms since one correct copy of the gene appears to adequately regulate iron absorption. "Silent" carriers, without symptoms of the disease, can still pass on the defect to their children.
If two parents are silent carriers, each child has a 25 percent chance of inheriting two copies of the defective gene, and will most likely develop the disease. An estimated 10 percent of the U.S. population carries the gene. Carriers are most likely to exhibit signs of the disease if there are triggers such as diabetes or alcoholism.
Treatment*
Hemochromatosis is one of the few genetic diseases for which there is a relatively simple and effective therapy. The disease is treated by removing blood (known as phlebotomy) from the patient in order to lower the overall level of iron in the blood.
Initially, the patient undergoes phlebotomy frequently to lower the level of iron. After this initial phase, phlebotomies are performed only as needed to keep iron levels normal. When phlebotomy is started early in the course of the illness, it can prevent most complications. But even if phlebotomy is begun after complications have occurred, the treatment can still decrease symptoms and improve life expectancy.
For more information, visit our topic overview or http://www.americanhs.org/.
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