By Diana Louise Carter
Democrat and Chronicle

(November 17, 2000) -- Bill Allen calls his condition the "Good News Disease."

That's because when people with hemochromatosis are diagnosed and treated early enough, they can be spared serious, life-shortening organ damage.

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 treated.

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 finding it.

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 screening.

Kowdley said that when hemochromatosis is discovered and treated before the liver is damaged, the patient will have a normal lifespan.

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 hemochromatosis.

"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 hemochromatosis.

"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 hemocenter.org