Advancing research on haemochromatosis

Thanks to decades of work by dedicated researchers like London, Ont.-based Dr. Paul Adams, haemochromatosis has become much easier to diagnose, though many people are still unaware of the genetic condition. And while treatment options are effective, they are limited, according to a new review published in The Lancet.

In Canada and the United States, one in 227 people have haemochromatosis, making it more common than cystic fibrosis. However, the U.K. Biobank Project, a large-scale biomedical database and research resource, found that only 12 per cent of people who have the condition actually know they have it.

Dr. Adams, a Scientist at Lawson Health Research Institute and Professor at Western University’s Schulich School of Medicine & Dentistry, explains, “The most common genetic test done in Canada and the U.S. is the best way to make the diagnosis, but you have to think of the condition and the doctor has to know that there is a genetic test available. So those two steps are some of our stumbling blocks.”

In Ontario, testing and diagnosis often comes only after some other issue arises, “One day someone stumbles on the fact that there's a liver abnormality, or the patient is complaining of fatigue and the doctor orders blood tests, thinking blood iron is going to be low,” Dr. Adams explains. “And then it turns out to be very high.” 

Most common in people of Northern European ancestry, haemochromatosis results in excess iron in the body and includes symptoms such as fatigue and arthritis pain, and can lead to serious complications like cirrhosis of the liver, liver cancer and death.

Starting in January 2000, Dr. Adams conducted a multi-year study involving 20,000 London, Ont. residents that helped change how haemochromatosis is diagnosed – moving from testing iron levels to genetic testing. With iron levels affected by alcohol consumption, obesity, inflammation and some types of cancer, the previous measure led to many false positive tests. 

But knowing when genetic testing should be done remains a challenge. The underdiagnosis and lack of awareness also remain an issue when it comes to more serious complications.

“If this is diagnosed early, like as a young adult, then this can be treated and those complications won’t develop,” Dr. Adams says. “If you donate blood, treatment is very similar to that procedure and it's tolerated extremely well in most. People who have a lot of excess iron will have this blood taken once a week until their iron levels come down.” 

He hopes this new publication will lead to better diagnosis and treatment, and sees a future in emerging biological therapies.

Dr. Adams continues to be involved in global research, including work with the U.K. Biobank Project on genomic testing, and is investigating partnerships to develop future gene editing treatment.

People looking for more information about haemochromatosis can reach learn more on the Canadian Haemochromatosis Society’s website.