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They'd rather not know

Some members of a family susceptible to a treatable blood-iron disorder reject testing

Sunday, June 25, 2000

By Byron Spice, Science Editor, Post-Gazette

Larry Vogelman always figured that aluminum would be the death of him. At age 55, he didn't hesitate to take early retirement from Ormet Corp.'s Hannibal, Ohio, aluminum plant, where he worked for 33 years, most of them as a pit man.

 
Relatives call Catherine Herra-Porter "the hemochromatosis lady' for her efforts to get family members tested for the genetic disease. (Tony Tye, Post-Gazette) 

Filling production "pots" with aluminum-containing bauxite ore is dusty, dirty work. The heat is nearly unbearable in the summer. "You'd feel like your ears were melting off," said Vogelman, a stocky, round-faced man from Shadyside, Ohio, about 65 miles southwest of Pittsburgh. "I figured once I got my kids on their own, I was out of there."

That was 10 years ago. But it turns out that iron, not aluminum, was a bigger threat to his health. The alumina dust brushed off once he left the Ohio Valley plant, but iron in the foods he ate accumulated in his cells, reaching toxic levels that damaged his liver.

This problem of iron overload has plagued generations of his large family and it is proving to be an all too typical story in America. The condition that causes it is hemochromatosis, pronounced he-muh-crow-muh-TOE-sis. It is the nation's most common genetic disease and arguably the most underdiagnosed.

Only when Vogelman's daughter, Catherine Herrera-Porter, began making inquiries four years ago did the east Ohio clan come to realize how it has been ravaged by the disorder -- at least 10 have hemochromatosis, another five are carriers and many others have yet to be tested. Some are still trying to come to terms with their genetic inheritance; many fear it will ruin careers and leave them without insurance.

Because of those fears, the name Vogelman has been substituted in this article for the family's actual surname.

Herrera-Porter knew nothing about hemochromatosis when she moved to the Pittsburgh area from Colorado in 1996, settling in Finleyville, where her husband is a dentist. But at the annual family reunion that summer, she learned that one of her uncles had been diagnosed with the disease.

As her aunt relayed the story, Herrera-Porter was intrigued. Her uncle -- Larry Vogelman's brother -- had suffered from rheumatoid arthritis for years. His doctor suspected that Lyme disease might have triggered it. Only after years of fruitless testing did the uncle mention to his doctor that his older brother had died years earlier of hemochromatosis.

The doctor appreciated what her uncle hadn't -- hemochromatosis is an inherited disease. Mutated genes cause the body to retain more iron from food than normal; if such a person eats an iron-rich diet, iron can accumulate to dangerous levels and cause a number of ailments, including heart disease, diabetes, liver cirrhosis, arthritis and fatigue.

Blood withdrawals

Testing showed that the uncle indeed had two copies of the gene mutation -- one inherited from each of his parents. He was placed on a regimen of phlebotomies -- regular blood withdrawals that lower the amount of iron in the blood to safe levels. Further testing showed that his 13-year-old grandson also had the condition.

Herrera-Porter began to wonder -- which of the other 11 surviving Vogelman siblings had the hemochromatosis gene? Did her father? Did she? And did her two sons?

The logical starting point, her pediatrician said, would be to test her father. If he didn't have at least one copy of the gene, he couldn't have passed it on.

Larry Vogelman hesitated. He knew his brother had died at age 58 from the disease. He was aware that men in his family tended to die young -- another reason why he had retired early -- but "I wasn't having any problems."

In 1998, he finally agreed to the test. In part, he noticed his health was deteriorating. "I would get tired just taking the trash out," he recalled. And he worried about his grandkids. "If I can prevent one of my grandsons or granddaughters from suffering, then it's worth it."

The tests showed that he had extremely high levels of iron in his blood. A subsequent liver biopsy confirmed cirrhosis. He also had heart damage. Regular phlebotomies and a diet that minimizes iron intake have since brought his iron levels under control. His liver disease has stabilized and his heart function has improved.

Gene tests showed that Herrera-Porter had one copy of the hemochromatosis gene, making her a carrier. Both her sons also turned out to be carriers, which means their offspring might have hemochromatosis if their wives also are carriers.

Genetic tests raise questions about entire families, however, and Herrera-Porter became determined to warn relatives who had not yet been tested. She took to cruising the Internet, downloading reams of information that she dutifully mailed out to her uncles, aunts, brothers and cousins. The bundles grew so large that postal workers advised her to describe them as books just to keep the postage affordable.

"They call me the Hemochromatosis Lady," she said. When I call my relatives, they answer the phone 'No, I haven't been tested for hemochromatosis yet.' They don't say hi or hello."

"She bugs everybody to get it done," Vogelman agreed.

Resisting the tests

About half of her aunts and uncles have yet to be tested, though all six who have been tested were shown to have hemochromatosis along with iron overload-related illnesses such as diabetes, rheumatoid arthritis and liver disease.

Her aunts and uncles are all in their 60s now and their age might explain their aversion to testing. But Herrera-Porter is frustrated by the resistance among younger family members, particularly those with young children. Already, one grandson has been found to have hemochromatosis and the failure to take action to head off iron overload could result in others developing health problems.

"We have a history of this," she said. "There's just no getting around it. Some people just don't want to know."

In many cases, the factor that causes many to agree to testing has little to do with their own health or even their children's. Like her father, most opt for testing out of concern for their grandchildren.

"It's like anything else," Vogelman said. "It takes a tragedy in a young kid to wake people up."

Some of the stiffest resistance to testing has come from Herrera-Porter's immediate family. Two of her four brothers are career military officers and fear that a test showing that they carried even one copy of the gene would have dire consequences. "The military is so conservative," she explained, "that [they] might be discharged or blocked from further promotions."

Hemochromatosis is indeed on the laundry list of conditions that would bar someone from enlisting, said Jim Turner, a Defense Department spokesman. But once enlisted, soldiers are deployed or promoted only on the basis of their ability to serve, he said.

Earlier this year, both military brothers finally agreed to testing, though they sought the exams through a non-military laboratory. The tests showed both have hemochromatosis and one is being treated by a private physician off-base.

In all, three of her four brothers, like her father, proved to have two copies of the hemochromatosis gene, putting them at risk for iron overload.

Those results, in turn, forced the hand of their mother, a nurse who had been reluctant to be tested.

A shock for mom

When Herrera-Porter turned out to be a carrier, with just one copy of the hemochromatosis gene, her mother could argue that her father was the source. But children inherit one copy of each gene from each parent; when the boys were found to have two copies of the hemochromatosis mutation, it became apparent that their mother must have contributed one of those copies.

"We almost had to pick her up off the floor," Herrera-Porter recalled. "My mom was devastated." It was one thing for her husband to have passed on a suspect gene to their children, but quite another for her to accept that she might have harmed their health, even if it was something she couldn't have known or done anything about.

"I was surprised she got tested. She says they take after me," Vogelman said with a chuckle.

Hemochromatosis, like most genetic diseases, is a recessive disorder. That means that a person must have two copies of the gene to develop the disease. A person with a single copy is a carrier. A child inherits one copy of each gene from each parent, so the child of two carriers has a one-in-four chance of inheriting the hemochromatosis mutation from both parents, a one-in-two chance of inheriting a mutated gene from one parent and a normal copy from the other, and a one-in-four chance of inheriting a normal gene from both parents.

The other type of genetic disease, a dominant disorder, occurs if a person has even one copy of the mutated gene. No one can be a carrier for such a disease; either you have it or you don't.

Dr. Geoffrey Block, director of the UPMC Center for Hemochromatosis and Iron Overload Disorders, said the reluctance shown by several of the Vogelmans to be tested for a genetic disease, or to acknowledge its existence, is a common phenomenon in medicine. Some people are so afraid of serious diseases that, after being informed of their diagnosis, they may have no recollection of the conversation, he noted.

Though this "fear of knowing" is not unique to genetics, the perception of many people that all genetic diseases are bad means that people may be more resistant to testing for even an easily treatable disease such as hemochromatosis, Block added.

The stigma of carrying a disease-related gene is so great for her mother that she has yet to inform her own brother of the results, Herrera-Porter noted. And many of the wives and relatives by marriage of other Vogelman family members likewise have resisted testing, apparently preferring to consider it a purely Vogelman problem.

It's a viewpoint that Herrera-Porter understands, but one that drives her a little crazy. Rather than it creating a stigma, she sees genetic testing as empowering people by allowing them to take action if necessary to head off illness.

"I didn't want my son to be the one that needed a liver transplant," she said. "I sleep good at night."


For information about hemochromatosis, contact the American Hemochromatosis Society at 1 (888) 655-4766, or its Web site at www.americanhs.org Or, contact the UPMC Center for Hemochromatosis and Iron Overload Disorders at 412-647-1500, or its Web site at www.upmc.edu/hemochromatosis



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