Rare Condition Means Another Dry St. Patrick's Day

A deadly disorder common among those of Irish descent requires big adjustments.

ByJANE E. ALLEN, ABC News Medical Unit
March 16, 2012, 7:46 AM

March 16, 2012— -- Ginger Crowley, a flame-haired Irish-American, says something called the Celtic Curse stands between her and raising a pint of Guinness this St. Patrick's Day.

Last year, as others celebrated the feast day, Crowley learned she had triple the normal amount of iron in her blood, a likely result of hereditary hemochromatosis. The common genetic disorder, also called iron overload affects about 1 million Americans, according to the Centers for Disease Control and Prevention, most often those of Northern European, particularly Irish, descent. Excess iron buildup can damage organs, especially the liver, which has put alcohol off-limits.

"It's pretty bizarre that… a people who should never drink celebrate a saint's day by drinking," said Crowley, a petite redhead in her 50s. "It does a trip on one's head to be told that you have a genetic blood disorder that could kill you."

On March 17, 2011, as Crowley awaited results of a confirmatory genetic test, she and her longtime boyfriend spent the day reading about hemochromatosis. They learned excess iron can be toxic to many organs and tissues, causing joint pain, arthritis, abdominal pain, diabetes and overall malaise. Not only could she not drink anymore (although some doctors allow alcohol in moderation once iron levels are normalized), she also would have to give up raw fish, especially shellfish. Goodbye, sushi. No more iron-fortified foods -- Crowley switched to unfortified pastas made in Italy. She would stop eating food cooked on iron skillets or grills, and avoid vitamin C supplements.

The LA-based media consultant, former journalist and actress felt relieved to have an explanation for 2.5 years of unexplained fatigue, heart palpitations and blood pressure spikes that gynecologists, cardiologists and others had misdiagnosed as symptoms of menopause, depression and hypertension.

But she also was terrified to learn that people with hemochromatosis "get liver cancer, that they die of cirrhosis and claim they hadn't been heavy drinkers or drinkers at all," she said in an interview Thursday. "That's the kicker: that you can die of a sudden heart attack. I see Irish names now of people that pass away without any seeming cause, and I go 'bingo.'"

Men suffer hemochromatosis three times more often than women, who are thought to be protected by monthly blood loss associated with menstruation. In 1996, scientists discovered that mutations in the HFE gene caused hereditary hemochromatosis, which led to development of a genetic test that confirmed Crowley's diagnosis. People with hemochromatosis inherit two abnormal copies of the gene, one from each parent, although many never have signs or symptoms. Carriers have a single abnormal gene. An estimated 1 in 8 people are carriers; about 1 in 250 people develop the disorder.

Crowley owes her diagnosis to Dr. Martin L. Alpert, a family practice physician in Santa Monica, Calif., who insists that routine physical exams include inexpensive tests of serum iron and iron binding capacity, used together to calculate iron saturation. Higher levels suggest possible hemochromatosis and are followed up with tests of ferritin -- a blood protein that stores iron -- and the genetic test. Alpert includes the iron tests in everyone's blood work "because I picked up two or three cases a year for probably the last 25 years."

"The disorder is very treatable. Most of the time, I catch it at a point where the damage is reversible," he said. The liver is the most vulnerable organ because iron is primarily stored there, where it can cause irritation and inflammation. However, he said, "the liver is one of the most forgiving organs. It can repair itself." Although the heart doesn't regenerate like the liver, getting iron levels down to normal can reduce or eliminate heart palpitations. With early treatment, patients "do great. They lead a normal life."

Alpert referred Crowley to a hematologist, a blood specialist who immediately began treating her with therapeutic phlebotomy or bloodletting, where blood is removed to lower iron concentration.

"The treatment sounds old-fashioned," Alpert said. "In the old days, doctors might have put leeches on people. Nowadays, we draw blood often…we gradually deplete the body of iron."

After 18 phlebotomies in seven months brought her iron levels back to normal, Crowley asked her hematologist if she could drink again. "I wouldn't if I were you," he responded. "You want to protect your liver." She will continue to be monitored and undergo additional phlebotomies whenever her iron levels rise.

Symptom-free today, she wonders why none of her other doctors ordered the iron tests that could have saved her several years of ill health. She speculates the answer is that she didn't "appear to be anemic," although she took a lot of iron on the assumption that her fatigue stemmed from anemia.

Crowley is surprised to be the first in her 100 percent Irish family diagnosed with iron overload. The Lexington, Mass., native said she's worried about her two brothers, each of whom has a 50-50 chance of having the problem, but they refuse to be tested.

Crowley monitors research in the pipeline, hoping for the day that she'll no longer have to face needle sticks and bloodletting.

As she anticipated her second dry St. Patrick's Day, Crowley called herself "one of the lucky ones. I'm feeling better than I probably have in five years." She'll spend Saturday celebrating the decision to go public so others can be diagnosed and treated before damage is done.

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