Q: I am a 59-year-old female recently diagnosed with hemochromatosis. Would you please discuss this iron overload disorder? Most people have never heard of it. My friend is a carrier and has needed two blood removals. She had genetic testing after her cousin was diagnosed with the disorder.
My father was an only child but my mother has 9 brothers and sisters and many, many nieces, nephews and cousins. Since my father is a carrier, wouldn’t there be a great chance that some of her siblings would also be carriers or even have the disorder? What advice would you give my relatives?
A: Hemochromatosis is an inherited disorder in which too much iron builds up in the body. The human body absorbs approximately 10% of the iron from ingested foods. That figure is elevated to about 30% for individuals diagnosed with hemochromatosis. Over time, these individuals absorb and retain up to 20 times more iron than the body actually requires to function. Too much iron can cause the liver to enlarge or even fail, cirrhosis (scarring of the liver), cardiac arrhythmias, heart failure, and more.
The condition is either primary or secondary. The primary form is inherited and results from a defective gene that controls how much iron is absorbed from foods. If an individual inherits one hemochromatosis gene from each parent, he or she is at increased risk for iron overload. Those who inherit a defective gene from only one parent are carriers but usually do not develop the condition themselves, even though they may be found to have higher than average iron absorption. This is one of the most common genetic disorders known in our country but only about 50% of those with the disorder has signs or symptoms of the disease. The secondary form is commonly the result of yet another disorder such as anemia, alcoholism and others.
The most common denominator in iron overload patients is joint pain, followed by fatigue, abdominal pain, cardiac issues and a loss of sex drive; yet surprisingly, some people have no symptoms when first diagnosed. When detection and treatment are not begun early on, arthritis, heart abnormalities, thyroid deficiency, early menopause, impotence and organ problems can result. Alcohol is known to worsen liver damage and cirrhosis caused by hemochromatosis. The ingestion of high vitamin C drinks and supplements can worsen the condition because C helps the body absorb iron from foods consumed.
Diagnosis can be made by laboratory testing but doctors might not initially consider hemochromatosis or test for it because symptoms can be vague and attributed to countless other conditions. For example, complaints of arthritis or a thyroid deficiency might lead to specific testing for those conditions, not hemochromatosis.
Treatment is accomplished by ridding the body of excess iron through phlebotomy – removal of blood. Depending on the severity of overload, a pint of blood may be taken once or twice each week for up to about a year. Lab testing will be performed periodically. Once iron levels return to within normal range, phlebotomy may be performed every two to four months for life, the length of time determined by a hepatologist or hematologist. If treatment begins prior to organ damage, associated conditions can be prevented. The outlook depends on the degree of damage found once a person enters the medical system.
To answer your questions regarding relatives, siblings of those diagnosed with hemachromatosis should have their blood tested to determine if they are carriers or have the disease, while children, parents, and other close relatives should consider being tested.
