Hereditary hemochromatosis is one of the most common genetic diseases in the United States. It involves an imbalance in the absorption, use and storage of iron in the body. As a result, iron is absorbed in excess and accumulates in a variety of tissues, particularly the liver. This leads to inflammation of the liver that over many years can progress to a variety of diseases, including enlarged liver, cirrhosis, cancer and liver failure.
If the condition progresses, resulting in severe liver damage or liver failure, a liver transplant may be necessary. The UCSF Liver Transplant Program performs over 100 transplants each year, making it one of the leading programs in the U.S. Survival statistics are among the very best in the country.
Symptoms of hemochromatosis develop at an earlier age in men than in women, because until the onset of menopause, women lose iron through menstruation, which compensates for an inherited tendency to accumulate iron. It is important to note, however, that some people do not experience any symptoms.
Common symptoms of the disease include:
In making a diagnosis of hemochromatosis, your doctor will start by conducting a thorough physical examination and asking about your medical history, including any symptoms you have been experiencing. A simple blood test is then used to identify whether you have the genetic defect that causes the disorder.
The treatment for hemochromatosis is safe and simple. It involves removing the excess iron from the body by drawing your blood, usually a pint at a time in regular intervals. This is done in the same way in which blood is drawn from donors at blood banks.
Once iron levels return to normal, you must give a pint of blood every two to four months for life. When the body replenishes the blood, it draws iron from storage sites such as the liver. Repeated over time, this process eventually eliminates the excess iron and risk of chronic liver disease.
It is important to note that alcohol abuse contributes to the damage caused by excess iron in the liver and should be avoided. Also, people with cirrhosis from hemochromatosis are at increased risk of liver cancer and should have regular surveillance studies. Liver transplantation is an option for patients with liver failure or early cancer.
Reviewed by health care specialists at UCSF Medical Center.