The Curse and the 'cure'
Early diagnosis of little-known disorder key for Celts

KELLY Bromley and Pat McParland.

Kelly Bromley suspected something was wrong when she experienced chronic fatigue, but she never suspected the Celtic Curse was the culprit. “I was tired all the time – I had two kids playing trombone and trumpet and I would fall asleep right in front of them,” Bromley says with a laugh.

Now living in North Vancouver, Bromley is one of seven siblings raised in Schreiber, Ontario, a little town of 900 on the northernmost point of Lake Superior. As tired as she was day and night, Bromley wrote it off as a common symptom of motherhood. “I drank coffee all the time to stay awake,” she remembers.

Then, 10 years ago she got a call from her sister, living in Australia. Bromley's sister was so fatigued that she saw a doctor, and was diagnosed with hereditary hemochromatosis, a common yet under-recognized and under-diagnosed iron overload genetic disorder manifested by too much iron stored in the body.

Common symptoms are joint pain, loss of libido, thyroid problems, elevated glucose and triglyceride levels, an enlarged liver, an irregular heartbeat and often bronzing or greying of the skin.

Without treatment, hemochromatosis can be deadly. Complications caused by excess iron storage can include arthritis, osteoporosis, diabetes, liver disease including cirrhosis, heart disease that leads to heart failure.

Hemochromatosis is Canada's most common genetic disease, with one in 300 having both mutated genes that cause the disorder.

But surprisingly, for those with Irish roots, the ratio jumps to one in 200, hence the moniker Celtic Curse. In Ireland, the incidence for hemochromatosis is one in 83 with one in four who carry one copy of the mutated gene.

Bromley's sister suggested she get tested. She did, and like six of seven siblings in the family, she tested positive for hemochromatosis. "I was lucky but a lot of people that don’t get tested in time will have to live with severe and potentially fatal problems," she says.

Bromley's brother Pat McParland was even luckier. He's the only sibling not carrying both genes for hemochromatosis, although he carries one of the genes. One in nine of the general population of Canada carry one hemochromatosis gene and it’s higher in Celtic ancestries.

If he didn't have enough reasons to fight hemochromatosis, McParland just found another.

He recently joined the Board of Directors for the Canadian Hemochromatosis Society, seeking to raise awareness about the disorder and eliminate needless suffering and premature death from undiagnosed hemochromatosis.

“There are a lot of family reasons for me to join the society but there's the larger cause,” McParland says. “Early diagnosis can save a lot of lives. People should do this – it's just a simple blood test but it could save your life and possibly even those of others.” And diagnosis is easier than ever.

“Unlike 10 years ago when a liver biopsy was needed to test for iron deposits, modern diagnosis only requires a blood sample. Plus, with advances in genetic screening, families with high risk for hemochromatosis incidence can be tested for the DNA mutations that cause the disorder.

The harm of excess iron in the body can be reversed with the regular removal of blood in treatment called a therapeutic phlebotomy. As the body makes new blood cells to replace those lost during phlebotomy, iron is pulled out from storage from the organs, tissues and joints, bringing iron levels down to a safe level.

All that's needed is increased awareness to make the ravages of hemochromatosis a thing of the past.

Canadian Hemochromatosis Society Executive Director and CEO Bob Rogers, points out a “win-win” situation that can be realized as more people get tested and treated for hemochromatosis – over a lifetime blood removed from the body in treatment can be used in the blood supply through the Canadian Blood Services.

So not only can identification and treatment of hemochromatosis help save the lives of the people with the disorder, it may in some circumstances help save the lives of others.

For more information on hemochromatosis, go to their website at www.toomuchiron.ca or contact the offices of the Canadian Hemochromatosis Society by phone at 1-877-BAD-IRON.

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