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."