National protocol urged to detect most common genetic disorder in Canada

Rob Ross of Port Albert, Saskatchewan, could not understand why he was suddenly experiencing seizures, joint pain, significant weight gain, and memory loss. Two years later – after many visits to various doctors, and after he had developed diabetes, arthritis, and heart and kidney problems – he finally learned the root cause was a common genetic disorder that could have been easily treated if it had been detected sooner.

Rob Ross experienced dramatic weight gain as one of his symptoms of hemochromatosis, an underdiagnosed condition that affects an estimated 80,000 Canadians (CNW Group/Canadian Hemochromatosis Society)

The Canadian Hemochromatosis Society (CHS) is recommending a national protocol to promote more timely diagnosis of hemochromatosis — a treatable genetic disorder that if undetected can cause many serious and sometimes fatal diseases.

Hereditary hemochromatosis, or HHC, is estimated to affect approximately 80,000 Canadians. “Thousands of Canadians – as well as their doctors — don’t know they have HHC, which represents a significant but largely unacknowledged national health risk,” says Dr. Sam Krikler, a hematopathologist at Surrey Memorial Hospital and chair of the Medical Advisory Board of the CHS.

Hemochromatosis can impair the body’s ability to shed excess iron, which is then stored in the organs or joints. If the iron continues to accumulate, it can cause serious and sometimes fatal conditions including liver and heart disease, diabetes, arthritis, mental illness, and cancer.

“The good news is, hemochromatosis is easily treated,” says Dr. Krikler. “The bad news is the diagnosis is often missed or comes too late.”

Dr. Krikler says the cost of treating cases of liver disease, diabetes, and arthritis resulting from undiagnosed HHC runs into many millions of dollars annually.  “There is a strong business case as well as an ethical imperative to allocate more resources for the early diagnosis and treatment of HHC,” he says.

May has been declared national Hemochromatosis Awareness Month in Canada. The Canadian Hemochromatosis Society is a registered charitable organization dedicated to raising awareness of HHC among the medical community and providing support for those with the disorder. – CNW

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