Say WHAT? For those who are among the majority of people who have never heard of, or are only vaguely aware of the condition, Hereditary Hemochromatosis HHC (iron overload) affects 1 in 300 Canadians – and it is potentially fatal.
On Wed., May 8th, Bob Rogers, Executive Director of the Canadian Hemochromatosis Society, was in Moncton, NB, to give a presentation about this highly prevalent genetic condition. As he glanced around the packed room, reduced to standing room only by the number of people who had come to hear about this affliction, he commented that he was overwhelmed by the response. It was the first time that the Society, based in Vancouver, BC, had the opportunity to personally spread its message across the country to governments, media, hemochromatosis sufferers, and others who want to know about it. The opportunity came about, in large part, by the generous donation of Sydney, NS, native Gordon Sutherland, who invited the Society to visit his city where there seemed to be an inordinate number of people with the condition.
As a result, with a passion born of conviction, Rogers kept the audience engaged for over two hours divulging more and more information about the condition and the woeful lack of information and knowledge often found within the medical community. He was quick to point out that the lack of knowledge was due, at least in part, to the fact that doctors, nurses and other health professionals are inundated with information about a myriad of topics and can only remember so much. So, it is up to us, the public or, in my own case, a person with hemochromatosis, to make sure that our physicians, hospitals, governments etc. learn more about it.
Essentially, Hemochromatosis causes the body to absorb and retain too much iron from the food we eat. As the excess builds up it is stored in tissues, joints, the liver, pancreas, heart, brain and endocrine glands – in quantities well beyond what our bodies are meant to manage.
There is a lengthy list of symptoms associated with HHC and if you have three or more of them, you should be screened for HHC. The list includes:
- Chronic fatigue
- Loss of body hair
- Loss of libido, impotence
- Abdominal distension and discomfort
- Thyroid problems
- Sudden weight loss
- Elevated liver enzymes, glucose & triglyceride levels
- Personality changes; significant mode swings, anger and depression
- Menstrual irregularities; premature menopause
- Arthritic pain
HHC can be the underlying cause of various diseases including:
- Diabetes (adult onset type 2)
- Enlarged liver; liver diseases including cirrhosis
- Bronzing or graying of the skin; jaundice
- Cancers (metastasized from the liver)
- Heart arrhythmia and cardiomyopathy
- Heart disease; congestive heart failure
Rogers said, “Hemochromatosis takes away the vibrancy from life.” As one who struggles with it regularly, I can certainly attest to that!
The statistics are scary. 1 in 9 Canadians carry the gene C282Y or variants that, when combined with the same or related gene, allows the condition to manifest itself as HHC. In Canada 1 in 300 people have the genetic makeup for classic HHC and here in the Maritimes, that risk factor is roughly double at 1 in 150 due to the high density of people with a Celtic / European / Acadian heritage.
HHC can not be cured, but it can be managed relatively easily through periodic phlebotomies (removal of blood) to lower the concentration of iron in the body. Removing the iron rich blood forces the body to deplete the excesses stored in the organs etc., and preventing further damage. Once a person with HHC reaches the maintenance (for life) phase, blood drawn can be donated to Canadian Blood Services if there are no other health related restrictions.
To find out if you have HHC requires a few tests. The first are two simple blood tests – a Transferrin Saturation test (and a TS% of more than 55% is considered elevated) and a Serum Ferritin test (to indicate the stored body iron levels). If those tests indicate higher than normal levels, a genetic test is needed. HHC is caused by defects in a gene called HFE (that regulates absorption of iron). A simple test will confirm the presence of the gene(s) and if a person has two copies of the gene – one from each parent, HHC may occur. Generally, if one person in a family is diagnosed, all first degree relatives should be genetically tested so treatment can begin, if necessary, prior to any major organ damage or the development of other health problems can begin.
A phenomenal amount of information was provided at last night’s meeting. Although I took copious notes, it was really hard to absorb it all so I will be reading the handout literature and referring to the Society’s website to refresh my memory.
One thing stood out for me. I’ve been having phlebotomies (such fun) every three months since I was diagnosed six years ago. When tested, it is keeping my Ferritin level at or below the recommended 50 ng/ml. But, what Rogers and the Society recommend is that, instead of continuing with phlebotomies on a calendar schedule, they should be done on an as-needed basis depending on the results of the easy ferritin test. You’d think I’d have figured that one out for myself. When I was looking after my own horses I determined their de-worming requirements based on fecal sample testing and provided the appropriate products based on type and degree of infestation. This is really no different and it is something I will talk to my doctor about next time I see him.
The Society has the goal of creating awareness of this under-diagnosed disorder to prevent needless suffering and ultimately to save lives. The results will also save money – for individuals, families and even governments. If people are given the requisite tests that cost very little ($10 per blood test for example), and if they are determined to have HHC prior to developing serious health problems, imagine the savings to the health care system and the economy overall as these people continue to live happy, healthy and productive lives.
If you have the risk factors based on your cultural heritage and/or some of the symptoms, ask your doctor about screening and save yourself.
Keep your eyes and ears open for information about events, fund raisers and information sessions under the auspices of the Canadian Hemochromatosis Society and feel free to join or donate if you can. As one who is acutely aware of the condition, thank you.