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Getting iron out

Tuesday, November 10, 1998

Deborah Weisberg, freelance writer who lives in Swisshelm Park, PA

Millions of baby boomers grew up believing in Popeye's spinach as the perfect preventive against "iron-poor blood." For one in 200 Americans, the cartoon is cruelly ironic.

They suffer from "chronic iron poisoning," or hemochromatosis, a condition with no cure that causes the body to store too much of a good thing.

Iron is needed to develop blood cells that promote growth and help the body fight infection. But while the average person eventually excretes most of the iron he consumes through the bowels, the kidneys, the skin and the hair, those with hemochromatosis absorb iron, storing it in their organs. Over time, it accumulates in toxic amounts, causing organs to fail because they literally rust.

Dr. Geoffrey Block, with medical assistant Cheryl Riley, tests Josephine Thomas as part of her regular treatment for hemochromatosis. Block has set up a clinic for people who have the disease, which frequently is not diagnosed until body organs have been severely or fatally damaged by iron overload.Robert J. Pavuchak/Post-Gazette

According to the U.S. Centers for Disease Control and Prevention, iron overload is the most common genetic disorder in the United States. And while it is easily treated, it also is among the most under-diagnosed conditions, often with deadly consequences. Because it can take years for overloading to occur, symptoms may not appear until middle age and, by then, the damage is done.

"The hemochromatosis itself may have no symptoms, yet it can be the underlying cause of many other diseases, primarily hepatitis, cirrhosis of the liver, heart disease, diabetes, arthritis, and reproductive failure, including impotence," says Dr. Geoffrey Block, 47, of Fox Chapel, a liver and genetic disease specialist.

Block is director of a new Hemochromatosis Center at UPMC Presbyterian, which provides a central place for screening, diagnosis and treatment, as well as genetic counseling to the 10,000 local residents estimated by Block to have the disease and the 150,000 believed to be silent carriers.

"Hemochromatosis is a kind of medical orphan," Block says, "because it has never really belonged anywhere. Patients may go to a hematologist to have their blood tested, then to differ ent specialists to have their secondary conditions treated - an endrocrinologist for diabetes, a rheumatologist for arthritis, and so on. We're now able to offer patients integrated, well-managed care."

Block said early screening is important in catching the condition before much damage is done. "A person may be in end-stage organ failure before their hemochromatosis is discovered. With early screening, they might have been helped."

Sandra Thomas, who founded the American Hemochromatosis Society after her mother, Josephine, was diagnosed with the genetic disorder, checks the contents of a Cheek Cell Collection DNA test kit with David Geise Snyder, the society's vice president. The kit allows for a test for hemochromatosis through a simple swab of cells in the cheek. Thomas also is the society's president. Robert J. Pavuchak/Post-Gazette

John King, 41, of Washington, Pa., died of heart disease and cirrhosis of the liver this past May, six weeks after he was diagnosed with hemochromatosis. He had been treated for diabetes for years, says his sister Melanie, 36, also of Washington, without doctors ever suspecting iron overload.

After moving to South Carolina, King developed liver problems and a biopsy disclosed hemochromatosis. His doctor consulted with Block and King was eventually brought back to Pittsburgh where he died awaiting heart and liver transplants.

"When he told us what he had, he wasn't sure even how to pronounce the word, but I looked it up in a medical reference book," his sister says. "That's how we learned about hemochromatosis. If John had been diagnosed when he was 20, he'd be alive today."

A simple treatment

While one drug has been developed with marginal success, the most effective treatment for hemochromatosis is phlebotomy, or letting of blood, since iron is transported to the organs through the blood. "Many patients get relief after the first few pints are taken," Block says. "They say it feels like their bodies are actually lightening up."

A doctor might remove a pint of blood weekly for the first year or so of treatment, but a patient's condition eventually can be maintained with less frequent treatments.

Robbie Munn, 8, of Lucasville, Ohio, diagnosed with hemochromatosis a year ago, has blood drawn every other month to keep from developing the symptoms, which have afflicted his 41-year-old father, Dave.

"In Robbie's case, it's a preventive measure," says his mother, Cindy, 40, a registered nurse and a carrier of the hemochromatosis gene. "Still, every time Robbie gets sick, I feel this awful fear that it's the hemochromatosis."

Whether doctors should regularly draw blood from children is controversial, Block says. Some physicians believe it inhibits growth. How much blood is drawn depends upon body mass and how rapidly the child is accumulating iron.

Some people, including children, accumulate iron much faster than others and experience organ failure by their early 20s or sooner; others don't experience consequences until much later in life.

Block says he treated a 22-year-old whose hemochromatosis was so advanced he required life-saving heart and liver transplants, which childhood diagnosis and treatment might have averted.

A patient activist

UPMC's Hemochromatosis Center has been endorsed by the American Hemochromatosis Society, founded by Sandra Thomas, 50, of Ohio Township, in response to what she calls "doctors' lack of knowledge and their reluctance to take the disease seriously."

Her mother was diagnosed 14 years ago after visiting seven doctors. "They kept telling me my tiredness was due to my age," says Josephine Thomas, 77, who lives with her daughter in Ohio Township. "When I complained about pain in my joints, they told me it was arthritis."

They prescribed a walker and suggested I get an artificial hip."

A blood test showed abnormal liver enzymes. A CT scan confirmed that

Josephine's liver was loaded with iron.

"We were astonished," recalls Sandra Thomas, who like 13 percent of Americans, has inherited the hemochromatosis gene. "We'd never heard of the disease and thought, ' How can iron be bad for you?' We couldn't get answers from our doctors, so we started researching the disease on our own. Thank God for the Internet."

Thomas was living in Delray Beach, Fla., at the time and became acquainted with Block through her computer search.

Since she established the American Hemochromatosis Society in March to provide information and support, Thomas estimates that at least 10 percent of inquiries have come from physicians seeking information.

Educating doctors

Discovery of the hemochromatosis gene two years ago is changing the way medical students learn about a disorder once believed to be rare, says Dr. George Michalopoulos, interim dean of the University of Pittsburgh School of Medicine.

"Gene-based medicine is just beginning to be practiced at the primary care level," Block says. "Because hemochromatosis is so common, it will likely be the model for educating physicians about gene-based medicine at the clinical level."

"We know now that it isn't just middle-aged men who get the disease," Block says, "and that women are not protected from hemochromatosis by child-bearing and menstruation." He adds that while children show fewer symptoms of hemochromatosis, except, in some cases, for slow development and delayed puberty, they are as likely as adults to have the disorder.

While every ethnic population can have hemochromatosis, the two abnormal genes identified with the disease are most common among Europeans, particularly the Irish, Scottish and English, for reasons not fully explained, Block says.

"We can only theorize that 100,000 to 40,000 years ago, they were probably eating foods grown in badly depleted soil and compensated by developing the ability to store iron," Block says. "It helped them to survive and multiply."

Though doctors once called hemochromatosis Bronze Diabetes for a condition which "rusts" the skin to an obvious tan, fewer than 5 percent of people with the condition display this symptom, Block says.

Iron overload can be detected through blood samples and DNA testing, which involves collecting tissue from the inside of the cheek with a tiny brush. Anyone who suspects they have the condition or who has a family member with symptoms should be screened, Block says.

Until UPMC's center was established, patients had to search for places to have their blood drawn for treatment - an emergency room or even a cancer treatment clinic because the technicians are good with needles .

Block hopes to eventually set up satellite locations throughout the region to provide this integrated service. Therapeutic phlebotomy, which most health insurance policies cover, costs about $50 per session.

Patients also may control the condition by limiting consumption of beef, spinach and other iron-rich foods, as well as iron-fortified foods like cereals, and by avoiding cooking foods in cast iron pots. Vitamin C and alcohol consumption increase iron absorption.

"Beyond that, the relationship between diet and hemochromatosis is only now being studied," Block says.

Signs of hemochromatosis

Chronic fatigue.

Aches and pains in muscles and joints.

Skin problems (changes in tone, infections, slow healing wounds).


Amenorrhea (lack of menstruation).

Irregular heartbeat.

Diabetes (frequent urination and thirst).

Congestive heart failure (shortness of breath).

Hepatitis (feeling of heaviness on upper right side of abdomen).

For more information

UPMC Hemochromatosis Center at UPMC Presbyterian in Oakland, (412)


American Hemochromatosis Society, Information about hemochromatosis can be

obtained by sending a #10, self-addressed envelope stamped with 55 cents

postage to: American Hemochromatosis Society, 777 East Atlanta Avenue, Suite

Z363, Delray Beach, Fla. 33483, or by calling (412) 635-8171 (Pittsburgh) or

(561) 266-9037 (Florida). e-mail: ahs@@emi.net

Also on the Web: www.americanhs.org

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