If found early HH is easily treated. Untreated HH can lead to severe organ damage. Excess iron builds up in the cells of the liver, heart, pancreas, joints, and pituitary gland. This leads to diseases such as
of the liver,
, and joint disease.
HH is caused by a genetic defect. It is passed down through autosomal recessive inheritance. This means a child who inherits two genes,one from each parent, is very likely to develop HH. However, not all people who have two copies of the gene develop signs and symptoms of HH.
Factors that increase your chance for developing HH include:
Family members with hemochromatosis
Men: onset between 30-50 years old (hemochromatosis affects men five times more frequently than women)
Women: 50 years old or older (postmenopausal)
Western or Northern European ancestry
Alcoholism (which can lead to liver disease and secondary hemochromatosis)
Many people have no symptoms when they are diagnosed. But when they occur, symptoms may include:
Joint pain (most common symptom)
Fatigue, lack of energy
Loss of sex drive
Damage to the adrenal gland and resulting adrenal insufficiency
If the disease is not treated early, iron may build up in body tissues. This may eventually lead to serious problems such as:
Liver disease, including an enlarged liver, cirrhosis,
, and liver failure
Damage to the pancreas, possibly causing diabetes
Heart abnormalities, such as irregular heart rhythms or congestive heart failure
of the abdomen—a test that uses magnetic waves to make pictures of the inside of the body
—a test that uses sound waves to examine the liver.
Treatment is simple, inexpensive, and safe.
The first step is to rid the body of excess iron. The process is called phlebotomy. This means removing blood. The schedule will depend on how severe the iron overload is. A pint of blood will be taken once or twice a week for several months to a year. It may last longer.
Once iron levels return to normal, maintenance therapy is given. A pint of blood is given every 2 to 4 months for life. Some people may need it more often. Female patients may need to increase their schedule after menopause.
These include steps to reduce the amount of iron you consume and/or absorb, and to help protect your liver:
Do not eat red meat or raw shellfish.
Do not take vitamin C supplements.
Do not take iron supplements.
Treating Associated Medical Conditions
You may need to be treated for other conditions that have developed. Hemochromatosis can cause these to develop:
This condition is often undiagnosed and untreated. It is considered rare. Doctors may not think to test for it. The initial symptoms can be vague. They can also mimic many other diseases. Doctors may also focus on the conditions caused by HH rather than the underlying iron problem. If the iron overload is found and treated before organ damage, a person can live a normal, healthy life. Screening for hemochromatosis is not a routine part of medical care. Researchers and public health officials do have some suggestions:
Brothers and sisters of people who have hemochromatosis should have their blood tested. This will help identify those that have the disease or are carriers.
Parents, children, and other close relatives of people who have the disease should consider testing.
Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes,
, and diabetes. These conditions may result from hemochromatosis.
A genetic counselor can help you review your family history, determine your specific risks, and review the appropriate testing.
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a