In 2016, Daron Wong, a busy IT executive from Calgary, Alberta, was in the best shape of his life. He had lost 70 pounds, kept a rigorous training schedule and was running up to four marathons a year. When he began to experience persistent fatigue, his doctor ordered bloodwork, and when the lab results came back, his iron levels were so off the charts that the physician, believing it to be a mistake, requested repeat testing. When that same result showed up in subsequent tests, additional screening and genetic testing ensued. Wong was eventually diagnosed with hemochromatosis, the most common genetic disease in the western world, according to the Canadian Hemochromatosis Society, affecting roughly one in 300 Canadians.
“I started treatment relatively quickly, within a week after diagnosis,” says Wong.
Hereditary hemochromatosis is diagnosed when there is an excessive amount of iron stored in the body, particularly in the skin, heart, liver, pancreas, pituitary gland, and joints. A blood test can determine whether there is a deficiency or an iron overload present, and a genetic test can show if a patient is carrying the gene for the disease — in fact, one in nine Canadians is a carrier for hemochromatosis. Over time, too much iron can damage tissues and organs, particularly the liver, and it could also lead to complications that may be fatal.
Research shows that males and females appear to be equally affected by hemochromatosis. Two of the most common signs are chronic fatigue and arthritis in the hands and ankles, but patients may also experience other symptoms, including brain fog, mood swings and personality changes, increased glucose levels, loss of sex drive, and bronze or gray skin colour. Males usually become symptomatic around the age 40 whereas females may notice the first signs after menopause or when they stop losing iron through menstruation.
‘You are born with hemochromatosis’
“You are born with hemochromatosis, you get an abnormal gene from each parent,” explains Dr. Paul Adams, who became involved in hemochromatosis research as a med student. In the summer of 1977, he drove across Ontario and Quebec and visited families with known hemochromatosis so that he could obtain blood samples from them — this was a time when genomics was evolving as a science and hemochromatosis research teams were being established around the world. The goal was to use the blood samples to help find the gene responsible for the disease. In 1996, genetic researchers identified the C282Y genetic mutation that was responsible for 85 per cent of all cases of hemochromatosis, and since then, other mutations have been discovered, including H63D.
To be affected by hemochromatosis, Adams says that a person must inherit a defective gene from both biological parents, but if they inherit the gene from just one parent, those individuals would be considered carriers for the disease. He suggests that even when someone has the genetic profile for hemochromatosis, it doesn’t necessarily mean that they would be affected by it.
“It starts as a genetic predisposition that can evolve into a disease if organs are damaged,” says Adams, who, over the course of his career, received many distinguished awards for his lifetime contribution to hemochromatosis, both in Canada and internationally.
Hemochromatosis could lead to cirrhosis, in which case, it would cause scarring and permanent damage to the liver, and it may also contribute to liver cancer. Patients may also experience other conditions, such as diabetes or arthritis and these individuals are left to face the irreversible, life-long conditions even after they complete their treatment for hemochromatosis.
To treat the disease, Wong underwent phlebotomy, a “de-ironing” procedure that draws blood from the patient over a specific period, at a higher frequency than a blood donation. The treatment protocol is effective because it removes red blood cells that contain iron from the patient, thereby depleting the excess iron in the body. In addition to phlebotomy, other disease management tools may also be recommended, including screening for liver cancer, avoiding iron supplements and inoculation against hepatitis A and B.
Wong’s phlebotomy occurred once every two weeks over a six-month period, but Adams says that the length of treatment varies and is unique to each patient. The de-ironing procedure is similar to what happens when someone voluntarily donates blood, except the drawn blood is discarded as it is considered medical waste. Patients who complete their treatment for hemochromatosis and who meet all the criteria can volunteer to be blood donors. In fact, Adams says that donating blood several times a year is part of a hemochromatosis maintenance therapy.
A phlebotomy can treat hemochromatosis
Kate Carkner, president of the Canadian Hemochromatosis Society has a personal connection to the cause. In 2013, her father passed away from complications of the disease soon after he was diagnosed, and she has since been involved with the organization, raising awareness about the disease, and supporting other families who are affected by it. Carkner says that receiving a proper diagnosis is the main challenge for people who are affected by hemochromatosis.
“It can be difficult to diagnose because its symptoms are often associated with other diseases,” she says.
That means that some people may attribute their fatigue or joint pain to a busy schedule, their age, or the weight they might have gained over the years, delaying getting medical help. On the flip side, a doctor might agree with a patient’s self-assessment, leaving it up to them to achieve symptom relief with meaningful diet and lifestyle changes. Carkner says that paying attention to the symptoms and a proper or early diagnosis can help patients avoid complications for the disease.
This year, the Canadian Hemochromatosis Society, which offers information, programs, and services to people affected by the disease, is celebrating 40 years by embarking on a cross-country bus tour. Carkner says that the goal of the tour is to help raise awareness and engage with the people they serve through information sessions, group blood donations and community events. The organization is raising funds to help ensure that the tour can reach everyone across the country.
“After two years of connecting with people virtually, this is our grassroots approach to getting into communities,” says Carkner. “Because we’re not raising money for a cure, it can be more difficult to drum up support, but having ongoing donations is important. It can help to support Canadians who are affected and raise awareness to prevent premature death from hemochromatosis.”
After treatment, Wong’s fatigue has resolved. He is focused on supporting fundraising efforts and spreading awareness about the disease through his volunteer work — he leads the Canadian Hemochromatosis Society’s chapter in Alberta.
Wong credits his successful outcome to the actions of his physician who didn’t dismiss his symptoms and attribute it to marathon running. Instead, the doctor did her due diligence, and went as far as requesting a genetic test, which is something that Wong says was never recommended by the hematologist who independently reviewed his iron results. He says that perhaps the hematologist saw his last name and assumed that genetic testing wasn’t necessary — research literature shows that it is rare for people of Asian descent to be affected by hemochromatosis. But Wong’s last name comes from his grandfather who was born in China — he married a Scottish woman and both of Wong’s parents are of Scottish descent. This distinction is important as research shows that hemochromatosis is prevalent in people with northern European ancestry.
As part of maintenance therapy, Wong regularly donates blood, and has an annual appointment with a hematologist to ensure that his iron levels are stable. Nine years ago, when he moved from Nova Scotia to Alberta, he brought with him his medical records. After his experience with hemochromatosis, he went through his past blood lab reports to try to compare his iron results over the years, but that information was unavailable.
“I’ve had great doctors in Nova Scotia, but not once did anyone ever test my iron levels,” says Wong. “I went back through my medical records and my health history, and I realized that my iron levels have never been checked. Testing should be the standard or done at least once in a while. It’s not that complicated, it’s just a box a physician checks off on a requisition form.”
To help Canadians learn more about this common genetic blood disorder, Canadian Hemochromatosis Society’s People and Programs lead, Liz Charyna, is hitting the open road on May 1, 2022 in Elsie the Bus. Charyna will be travelling from British Columbia to Newfoundland, to meet with local communities and those affected by hemochromatosis across Canada. Contact Liz at email@example.com to find out when she’ll be in your town.
Maja Begovic is a Toronto-based writer.