Iron overload easily
cured, often ignored
(November 17, 2000) -- Bill Allen calls his condition the "Good
That's because when people with hemochromatosis are diagnosed and
treated early enough, they can be spared serious, life-shortening
The bad news about the disease is that even though it's quite
common, many people -- including doctors -- don't know about
hemochromatosis or think to look out for it until it's too late.
It took Allen 10 years and just about as many doctors to get to
the root of his medical problems. Fortunately for the 50-year-old
Rochester resident, his own research led him to suspect correctly
what he had and get treatment before his liver showed signs of
damage. He also notified all of his family and was able to confirm
that a brother had the same problem, for which he also has been
The condition is a genetic defect that causes your body to store
large amounts of iron. This iron over time erodes organs such as the
liver, heart, pancreas and pituitary gland, as well as joints.
Results include diabetes, cirrhosis or cancer of the liver,
impotence and arthritis, among other problems.
"If you are aware of the disease and you think about it and look
for it, you'll find it," said Dr. Kris V. Kowdley, an expert on
hemochromatosis who led grand rounds at Via Health's Rochester
General Hospital yesterday.
Kowdley, who teaches at the University of Washington School of
Medicine in Seattle, said most experts agree that hemochromatosis is
common and that fairly inexpensive screening tests are effective in
Treatment is also simple. Patients give blood -- sometimes as
often as twice a week, until their iron levels drop to normal. After
that they have blood drawn just a few times a year.
Both men and women have the genetic abnormality but men seem to
develop more problems because they can't get rid of excess iron
through menstruation. But female panelists at a hemochromatosis
conference in South Carolina last month told of being diagnosed with
mental illness when their physical ailments couldn't be solved.
Doctors agree on some aspects of hemochromatosis, but they're
still debating others, such as which is the best way to test the
general population, Kowdley said.
"Genetic testing is not an efficient way to pick up people with
iron overload," Kowdley said. It takes a defective gene from each
parent for a person to be at risk of developing problems.
It's still not known how many people who have the genetic
abnormality go on to store extra iron, and how many of those will
become ill, said Dr. Pradyumna Phatak, chief of medical oncology and
hematology at General.
A study he co-authored on that subject will appear in the Dec. 1
issue of Blood, the journal of the American society of Hematology.
"There's the whole issue of genetic discrimination," Phatak
added, which makes doctors reluctant to launch into widespread
testing. He's had to write letters to patients' insurance companies
to explain their conditions so they won't have to pay higher
premiums or lose their insurance altogether. Those appeals work, he
says, if the company will listen.
"This is being looked at at a national level," Phatak said. He's
on a committee at the National Centers for Disease Control and
Prevention that's about to launch an education campaign for
physicians. The next step, he says, it to recommend some type of
Kowdley said that when hemochromatosis is discovered and treated
before the liver is damaged, the patient will have a normal
That seems to have been the case for Timothy J. Downs, 69, of
Chili. The former director of the Anthony L. Jordan Health Center
was having a routine physical there four years ago when his doctor
asked whether he would undergo screening as part of a study Phatak
was doing. Downs' blood test showed elevated levels of stored iron.
Downs hadn't felt any symptoms other than unusual fatigue when
traveling on business.
"I feel very fortunate that I was caught in the study before I
got into problems," he said. Two of his siblings were later found to
have hemochromatosis, too.
Downs noted that as an Air Force pilot and member of the Air
Force Reserve he underwent yearly physicals for many years. But the
condition went undetected.
"The reason it never turned up was that nobody ever tested me for
it," he said.
Yet screening tests at Xerox Corp. flagged Richard E. Blum of
Wolcott, Wayne County, to a possible problem several years ago. He
followed up with his general practitioner, who diagnosed
"I really feel that we've solved one of the mysteries about why
the people in my family do not have longevity," said Blum, 55. His
58-year-old brother tested positive for the condition and has had
heart problems. Another brother died at age 54 with cancer and had
the bronze coloring that is common in diabetics who have
"I have more peace of mind," Blum said. "Because of my diagnosis,
I think a lot of people in my family are going to stay healthier."
And, he hopes, live longer.
To learn more about hemochromatosis, visit: http://www.americanhs.org/ and