Hemochromatosis is a genetic disorder that causes too much iron to be absorbed and stored in the body, especially in the liver, heart, and pancreas. The extra iron builds up in the organs, causing damage and, at the extreme, organ failure. There is no natural way for the body to rid itself of excess iron.
While all ethnic groups are affected, caucasians of Northern European descent are most commonly impacted. Both men and women can inherit the gene that causes hemochromatosis; however, men are five times more likely than women to be diagnosed with hereditary hemochromatosis. For men, the disorder traditionally appears between the ages of 30 and 50, and for women, traditionally after age 50.
This gene disorder is present at birth, but symptoms do not usually appear until someone is an adult. Many people with this disorder do not have any symptoms when they are diagnosed. For others, painful joints is the most common symptom, followed by (in no particular order) fatigue, pain in the abdomen, heart problems, and low sex drive.
A physical exam and routine blood tests can help determine if an individual has too much iron stored in the body. A liver biopsy (removing a small piece of liver tissue and examining it under a microscope) may also be needed to show how much iron is in the liver and whether or not there is liver damage.
Hemochromatosis is usually treated by ridding the body of excess iron, also known as phlebotomy.
Depending on the severity of a person’s condition, he or she will have a pint of blood drawn once or twice each week for several months to one year – sometimes longer.
Iron levels are monitored, with the goal being to keep them at the low end of normal. When iron levels stabilize, the patient traditionally gives one pint of blood every two to four months, and will continue to do so for life.
Early treatment can prevent liver and heart disease, arthritis, and diabetes.
