ST. LOUIS---What is the most common genetic disorder in the
United States? Many Americans would be surprised to learn it
is hemochromatosis, a disease in which the body absorbs too
much iron from the gastrointestinal tract. Hemochromatosis
affects approximately one in 200 people in the United States
and one in nine persons is a carrier. About 1.5 million
Americans are unaware they have the disease.
July is "Hemochromatosis Screening Awareness Month," an
ideal time to get tested for this common but highly treatable
disease. The initial screening consists of a simple blood test
to measure iron levels. "If it is diagnosed in time, those
with the disease just need blood removed periodically to
remove the excess iron from their system," said Bruce R.
Bacon, M.D., director of the division of gastroenterology and
hepatology at Saint Louis University School of Medicine. "A
person with properly managed hemochromatosis who has no
evident tissue or organ damage has as good of a chance of
living a long, healthy life as someone who does not have iron
We hear so often of iron's benefits to the body, but too
much iron can have serious consequences. Normally, the body
only absorbs as much iron as it needs. But in patients with
hemochromatosis, excess iron is absorbed and stored throughout
the body, in places such as the liver, pancreas and heart, and
builds up to toxic levels, damaging these organs and tissues.
Cirrhosis of the liver, liver cancer, diabetes, impotence and
heart failure can be caused or worsened by hemochromatosis.
Hemochromatosis is sometimes called hereditary
hemochromatosis or HH. It is caused by a mutation in a
particular gene, the HFE gene, which is inherited from both
parents. There can be several generations of silent carriers
of the mutated gene who never become ill, which may give a
false security that hemochromatosis does not "run in the
family." Often, those who get the disease are of northern
European descent, particularly those of Irish, Scottish or
Women and men are equally likely to carry the gene for iron
overload, but men are more likely to become sick from iron
accumulation. "Menstrual bleeding provides some reduction of
the excess iron," Dr. Bacon said. "However, after menopause,
women become just as vulnerable as men to hemochromatosis."
The most common first symptoms are a vague feeling of
fatigue or joint aches. Often these may be so mild they pass
unnoticed. Impotence or loss of sexual desire may ensue; some
women stop menstruating. Depression can also occur.
Dr. Bacon emphasizes, "Although some people may develop
problems by age 20, symptoms usually do not appear until
between 40 and 60 years of age. By then, the patient may have
already sustained serious liver damage. That's why it's so
important to get screened for this disease."
### Editor's Note: Dr. Bacon is an
internationally known expert in hemochromatosis. To arrange an
interview with Dr. Bacon, please contact Jennifer Frakes,
health sciences center media relations, at (314) 977-8018.