Testing to diagnose blood disorder

Genetic problem causes iron overload and health complications


A genetic blood disorder, which can lead to many health complications if untreated, can be identified by a simple blood test.

Hereditary hemochromatosis, or iron overload, is an inherited disorder that causes the body to absorb two to three times the normal amount of iron.

It is the most common genetic disorder affecting Canadians. One in nine people are carriers and one in 300 are estimated to have two copies of the gene.

“The symptoms are virtually undetectable,” said Diane Ambery, whose husband Jeff was diagnosed in November.

Five years ago, when he was 48, the first signs of the disorder appeared.

“In my mind, I thought he had severe depression,” Diane Ambery said. The mood swings continued. Another symptom, bronzing of the skin, was not apparent since Jeff Ambery would tan easily.

“You don’t have to have all the symptoms to have the disease,” she said.

It was not until last year when he was finally diagnosed, but the disorder had already taken its toll.

He had developed diabetes, which can be a result of untreated hemochromatosis.

He is now in extended care.

“His health is very fragile,” Diane Ambery said. “Had he been diagnosed earlier, he would not be in this condition.”

The disorder can also lead to liver damage, cancer, heart disease, thyroid problems, chronic fatigue, arthritis, loss of libido and other conditions.

Treatment of the disorder is through phlebotomy or bloodletting two to six times a year. The treatment prevents damage from iron overload and continues for life.

Because of the health problems resulting from the condition, coping with hemochromatosis is difficult for the Amberys.

Diane Ambery urges others to learn about the disorder and to be tested early.

Information sessions about the disease are being held in the Okanagan.

In Penticton, a session will take place at the Galleria Room of the Shatford Centre, 760 Main St. this evening at 7 p.m.

In Kelowna, a session will be held at the Best Western Kelowna Plus Hotel and Suites, 2402 Hwy. 97 on Monday, Aug. 20 at 7 p.m. In Vernon, a session will be held at the Best Western Plus Vernon Lodge and Conference Centre, 3914 32nd St. on Tuesday, Aug. 21 at 7 p.m.

 

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