Canadian Hemochromatosis Blog

Guest Blog by Anne Stang

“Hemo what?” I suspect I am not the only person who has had that reaction on being told about hemochromatosis. Fortunately for me, I was diagnosed from a routine blood test by my GP in February 2005. Hearing that my serum ferritin level was 458 ng/ml and that I had two copies of the C282Y mutation in the HFE gene didn’t mean much back then.

My first stop on the way home that day was to get the Iron Disorders Institute’s book on hemochromatosis to educate myself. Since my diagnosis came as a result of a routine test, I was only aware of symptoms in retrospect. I was stiff at times, and tired, but I attributed that to my age (now 66). I also had mood swings, but they were  not that frequent and I don’t think they were noticeable by others.

I had ten phlebotomies (I call them my “leech” sessions) in twelve weeks in the spring of 2005 to bring my ferritin level back to normal. I have had three phlebotomies since, as part of maintenance, and have regular blood tests to follow my ferritin levels. Typical blood donations through Canadian Blood Services are unfortunately not an option for me because I had rheumatic fever at age ten, and have travelled to malaria exposed countries.

I have also modified my diet at home. I choose not to eat red meat and I got rid of iron-rich products like Bran Flakes and Cheerios. It remains to be seen what the long-term effects of my phlebotomies and diet changes will be.

The doctor does not think I have sustained any tissue damage. I still get stiff of course, but my energy level has been much higher for almost a year and the mood swings are gone. Some visible weight loss was a welcome side-effect!

Overall though, the hemochromatosis diagnosis has not changed my life much except to make me even busier. I am a  retired teacher librarian and I occupy my time with reading, gardening, sewing, cooking (even with tofu), cycling, cross-country skiing, travelling, going to operas and other concerts, singing, and volunteering.

I have a large family with eight living siblings, and my doctor suggested to me that I inform them about hemochromatosis. They have all had their ferritin checked now, and several have had the genetic test. One older sister also has hemochromatosis and two sisters are confirmed carriers. I suspect another sister and an older brother are also carriers, and the other three are unaffected.

My sister with hemochromatosis has had monthly phlebotomies, and one of her daughters has also had several as she inherited the H63D gene variation from her father. My sister, who is a carrier, has had four phlebotomies and is awaiting another appointment with a hematologist to see if she needs more. The suspected carriers in the family are either on the wait-list for genetic counselling or are contemplating the referral.

Because my parents were both from very large families, and two of mom’s sisters married two of dad’s brothers, I felt that it was extremely important to reach further than my sibling branch of the family tree, and inform as many relatives as possible. I talked a lot at family gatherings and sent some letters and emails. The first news of an affected relative came from the daughter of a “double” cousin. She was diagnosed at 22. Since then, I have found out that her mother (my cousin’s wife) and brother also have hemochromatosis. So the  hemochromatosis family history is growing. We all now use the Canadian Hemochromatosis Society website and have become society members.

My advocacy about hemochromatosis has included talks to my ethnic group and to a senior’s group, as well as several  short articles in my ethnic and community newsletters. My ethnic group is called the Germans from Russia (GRs). They are the Germans who migrated to Russia between the 1760s and 1840s, and then to the Americas from about 1870 to 1930. They lived in their own communities in Russia, and often did that as well for the first years in Canada, the United States and South America. Consequently, there were not a lot of marriages outside of the community for as much as two hundred years. The GR population eventually numbered well  over 1 million, and given the history, I wonder if the incidence of hemochromatosis is higher among the GRs than in the general Caucasian population.

It was this speculation that prompted me to visit Macklin, Saskatchewan, where many of my relatives live, for the annual Bunnock Tournament. Bunnock is a game that was brought to Canada by the GR ancestors. I knew the tournament brought many visitors to the area, so I arranged to have a table at their fair to explain hemochromatosis and to distribute brochures. Because I am related to many families in the area, I received more than a polite reception and many promised to talk to their doctors. I hope the doctors in the area will be inundated with some of the 400 brochures I handed out!

I have met very few people in Calgary with hemochromatosis, but I am hearing more informed responses when I tell people about my condition. Just this week, my massage therapist told me that one of his clients complained about  her diabetes and other symptoms. He remembered our conversations and gave her one of the brochures I had left there. A week later, she called the therapist to say she had been diagnosed with hemochromatosis. A little effort from all of us to spread the word can make a difference for so many others.

Guest Blog by Rayne Kuntz

A simple blood test ordered during my annual medical exam recently revealed a serious medical condition my doctor wasn’t even looking for. I have hemochromatosis, Canada’s #1 genetic disorder.

Hemochromatosis is iron overload. My body has no way to naturally expel excess iron, so if untreated, it stores up in my organs and tissues, eventually doing damage, which could lead to premature death.

1 in 300 Canadians is at risk of developing the potentially fatal disorder. The good news: it is easily treatable if discovered early.

I am 42 and in good health. The excess iron doesn’t appear to have done any damage. I consider myself very lucky; a lot of people get the diagnosis when they are already dealing with the ravages of too much iron in their body; they are battling diseases such as cirrhosis of the liver, heart disease, diabetes, arthritis and even cancer.

My treatment currently involves weekly phlebotomies. It is similar to a blood donation. It is the only way to get the excess iron out of my body. The specialist handling my care expects it to take about four months for me to get my iron levels to a normal level. After that I should be able to maintain the levels by donating blood a few times a year. My prognosis is a healthy, normal life. I feel like the iron test my family doctor ordered was a gift.

Hemochromatosis is extremely prevalent in people with northern European decent. I urge people to ask their doctors to check their iron levels, especially if they share my ethnic background. Why not find out now; you could avoid needless suffering or even premature death.

By Brenda Ohara, CHS Communications Coordinator

The Globe and Mail recently had an article about the importance of talking with family members in order to determine how at risk you might be for certain health issues.

““Your family (medical) history holds key information about your past and clues to your future health. That’s kind of the bottom line,” says Karin Dent, a genetic counsellor from Salt Lake City who is president-elect of the U.S. National Society of Genetic Counsellors.”

Sound familiar? Hemochromatosis is one of those health issues that affect entire families for generations. Research show that hemochromatosis has been genetically passed on for centuries, yet people still suffer and die not knowing the root cause of their illnesses.

Knowing your family’s medical history will help your doctor with a diagnosis, or better yet, will help you to prevent the onset of any damage that hemochromatosis can cause, such as heart disease, cancer and diabetes.  You can then pass this knowledge onto future offspring to help them stay healthy and free of hemochromatosis induced complications. Maybe one day hemochromatosis – iron overload – will be a thing of the past. Wouldn’t that be great?

Guest Blog By Katherine Koper

I guess I’m one of the lucky ones. I discovered that I had HHC in the very early stages before organ damage. I was and still remain asymptomatic. I’m an elementary teacher. I didn’t have any serious health problems, or at least none that couldn’t be fixed if I’d lost some weight. I’d tried every  diet known. I even tried to be anorexic for a short time. Then I happened to watch Roseanne tell about her gastric bypass surgery and realized that I was included in the group called “morbidly obese.” Our small town had a very compassionate and understanding doctor. She understood obesity can  effect one physically and emotionally, even changing a person’s personality. She referred me to her best choice of surgeon. Even though I lived in northern Ontario and the surgeon was in Toronto, he agreed to schedule me for surgery sight unseen. So, I turned 50, and in the summer of 1999 I began the next half of my life. Gastric by-pass is serious major surgery and something not to be entered into lightly. My recovery was fast and uncomplicated. My doctor worked closely with the hospital dietician and both required patients to take liquid iron after surgery. The iron made me  sick, but in about 18 months I lost 110 lb and felt great. No more arthritic knees and ankles, high blood pressure or fear of diabetes. The surgeon  required blood tests every 3 months. The dietician became extremely concerned about my high ferritin levels, as I was registering 689. Through her efforts, she finally convinced the surgeon to schedule me to see a hematologist. The genetic blood test revealed that I am “homozygous for the  Cys282Tyr mutation” and had inherited hemochromatosis. By switching to a multi vitamin without iron, avoiding cold cereals and liver and drinking more tea and less orange juice, I was able to reduce my ferritin level to 200 within a year. The hematologist continued to monitor me. Meanwhile,  my younger brother in southern Ontario had to wait almost a year to see a specialist who confirmed that he also has HHC (ferritin levels of 2400!). This explained his early onset arthritis. We realize now that our father probably had HHC, which helps us understand his depression, change of  personality and early death. Our mother is a carrier. Only two of the four siblings have HHC. I asked the hematologist on one of my visits about two lumps in my neck. This is when I learned that cancer tends to grow in an iron rich environment. It’s been a year now since my radiation and  chemotherapy treatments ended. I had been 231 and now I was 89 lbs! The doctors encouraged me to drink liquid meal replacements. Most of these contain iron (there are two brands that don’t but they are more expensive and less easily obtained). My ferritin jumped to the mid 800s last  December. By the end of January it was 214. A drop of that amount in one month without any dietary change seemed incredible and suspicious. No  one has been able to give me a reasonable explanation for it, but they always add that radiation and chemotherapy drugs can do strange things to our  bodies. I started corresponding with CHS and learned that a ferritin level of 200 is NOT normal once you have been labeled HH. The society sent the hematologist their doctors’ information package and he scheduled me to get three phlebotomies three weeks apart before the school year began. My  ferritin level now registers 32! Since I continue to have no symptoms, the hematologist no longer needs to see me. We have a new doctor in our  community, and he will be able to schedule three or four phlebotomies a year for me, which should keep the ferritin below 50. I am most fascinated  by hereditary hemochromatosis. It seems incredible that so few people, including doctors and hematologists, know so little about this condition. How wonderful that we have the great persistence and knowledge of the founding members of the Canadian and American HH societies to rely on.

Guest Blog By Linda Oldford (Spring 2008 Iron Filings)

I first heard of hemochromatosis in the late 1980s when I watched a CBC program on which Marie Warder was discussing the disorder and her book, The Bronze Killer. I remember writing down the details and being intrigued that such a potentially fatal disease could go undiagnosed. When my brother was diagnosed in 1994, I immediately recalled the television program and the hemochromatosis society that Marie had started.

In 1995, the Readers Digest printed an article about hemochromatosis. I encouraged family members to read it and promote testing in order to find out from which side of the family we had inherited hemochromatosis. I suspected my father’s side because three of his brothers had died in their 60s from stomach or liver disease. As well, that side of the family had cases of early diabetes and arthritis. My suspicions were confirmed when my father’s sister’s son (my cousin) was diagnosed next. I come from an immediate family of 14 and now five of us have been diagnosed since my brother’s initial diagnosis. Now more than 100 extended family members have been tested. For me, that confirms why awareness is so important.

At first, I thought it was unlikely that I would have it as I was having blood tests and check-ups every couple of months after treatment for breast cancer. I have had arthritis for years and now I was also feeling chronically fatigued, had irritable bowel, mood swings, and my hormones were abnormal, all of which I blamed on the chemotherapy and radiation treatment. But I was wrong. Instead, these were all symptoms of hemochromatosis. I had genetic testing done in 2003 which discovered the common C282Y mutations on the HFE gene. My ferritin level was 586 ng/ml, and following investigations and a visit to a hematologist, I began phlebotomies to bring my ferritin down to 50 ng/ml. I am now maintained on phlebotomies 3-4 times a year through the hospital system as I am unable to donate at CBS clinics because I had breast cancer. My four children have been tested and do not have hemochromatosis.

In 2004, one of my brothers, who initially did not have the genetic testing, started experiencing severe arthritis. He remembered the family history and symptoms of hemochromatosis and so he had his iron levels checked. His ferritin level was measured at 3100 ng/ml and obviously started phlebotomies right away. He thankfully is now down to a healthier level of 50 ng/ml.

With the family looked after, I set about to inform whomever I could about this disease. I felt that everyone needed to know about hemochromatosis and get tested because if diagnosed early, simple treatment via phlebotomies could prevent the secondary damage.

I joined the CHS and received all the educational literature. I started my awareness campaign at the local hospital where I worked as a nurse. I found few staff who knew what hemochromatosis was, so I developed an information package for all the medical staff. It was well received. Last year, we had a display table in the hospital lobby to hand out brochures.

I talked about hemochromatosis at my check-up at the cancer clinic, and on my next visit, the doctor told me, because of what I had told him, a colleague of his got tested and was diagnosed.

I then moved on to the community putting up posters during hemochromatosis awareness month in May and leaving brochures in clinics, doctors’ offices, malls, and anywhere else that I could think of! Now I am happy to report that our local radio station plays the hemochromatosis public service announcement during May awareness month, the local newspaper has printed the article Hemochromatosis Should Be A Household Word and our provincial newspaper interviewed me and published an article on hemochromatosis. Two years ago, I joined an on-line book club “Bookcrossing” and use www.toomuchiron.ca as my home page. I get several messages a year from people all over the world who check it out and thank me for providing hemochromatosis awareness.

With my role as CHS regional coordinator for Newfoundland, I hope to continue to spread awareness whenever and wherever I can.

CLEMENT FINCH – A man who, together with Professor T. Bothwell of South Africa, co-wrote many articles and figured prominently in the early history of the Canadian Hemochromatosis Society and its international affiliates.

The Canadian Hemochromatosis Society has been saddened by news of the death of Professor Clement Finch who died at age 94 on June 28, 2010, at his home in La Jolla, San Diego, California. An American physician and researcher who made pioneering discoveries in the field of hematology, particularly in regard to how the body absorbs and uses iron, he also investigated iron’s role in such disorders as anemia and hemochromatosis (HHC), conditions in which there is too little iron in the blood or too much iron in the body.  His discoveries led to better nutritional guidance and treatment of these conditions.

At a stage when some physicians were irked by Marie Warder’s reference to HHC as the “bronze killer”, he generously lent credibility to her work and the societies she had established by referring to HHC as, “The Bronze Killer,” in the Western Journal of Medicine, in September 1990. In that same editorial, Finch wrote: “A strong case can be made for incorporating measurements of the plasma iron, iron-binding capacity and ferritin into the routine blood screen. Without such a survey, there is little hope of recognizing hemochromatosis at a time when treatment has the greatest promise.”  He also notes: “Societies have been formed whose mission is to disseminate information about the “bronze killer”. . . Their information program is so effective that the people they reach are sometimes far better informed than their physicians.” (Finch, Clement (September 1990)). “Hemochromatosis — Treatment is Easy, Diagnosis is Hard”.

The Canadian Hemochromatosis Society continues the work that Marie Warder began and in 2010 is celebrating its 30th anniversary.  Our sincere condolences are extended to his family.

Hemochromatosis month is an opportunity for Canadians to learn more about this disease. Early discovery can prevent irreversible complications and allow affected individuals to enjoy a full and healthy life.

Hemochromatosis is the most common form of iron overload disease. It causes the body to absorb and store more iron than it needs. The extra iron build-up can eventually cause the liver, heart and pancreas to fail.

Although all ethnic groups are affected, hemochromatosis primarily impacts Canadians of European origin. The main cause of hemochromatosis is a gene mutation, where only those who inherit the faulty genes from both parents are at risk of developing the disease.

For most of those affected, symptoms like chronic fatigue, depression, joint pain and arthritis, skin discolouration (bronzing or greying), thyroid problems and irregular heartbeat become apparent during middle age.

Fortunately, hemochromatosis can be prevented and managed successfully, especially when people are aware of and informed about the disease.

Information, support and treatment are all available. The Government of Canada recognizes the roles that organizations like the Canadian Hemochromatosis Society play in raising awareness of this disorder. For more information on what the Canadian Hemochromatosis Society is doing, I would encourage you to see their website.

Leona Aglukkaq
Minister of Health
Government of Canada

By Bob Rogers, CHS Executive Director

The Facts on Hereditary Hemochromatosis

Recently I was having dinner with a friend who is a semi-retired physician who performs locums at a local medical clinic in my community.  He mentioned that the day before he had worked at the clinic and he was assigned 53 out a total 114 patients that day between the hours of 9 AM - 5 PM.  The 53 he diagnosed and cared for works out to roughly 7 patients an hour or a new patient every 8.5 minutes (not including a coffee and lunch break or consulting with clerks or medical staff).

My medical friend then commented, “There are so many ‘orphans’ that come to a clinic”, defining ‘orphans’ as people without a regular general practitioner, “and they attend a clinic to get a remedy for a critical illness and since I do not know much about them, I am left to solving the surface issue rather than going  deeper into what the cause of the illness is.  If I don’t keep pace with the patient load in the waiting room, I would leave many people untreated.”  As the Executive DIrector of The Canadian Hemochromatosis Society, my thoughts went to the thousands of Canadians in the same situation and how their underlying disorder, hemochromatosis, goes untested, undiagnosed and untreated because they are ‘orphans’ in the system.

Hereditary Hemochromatosis (HHC) is primarily an inherited (genetic) condition that allows too much iron to be absorbed and stored throughout the body. It  is the most common genetic disorder in Canada, affecting one in every 300 Canadians in the general population. It affects men and women equally, although signs appear later in women.  One in 9 are carriers of one of the mutated genes responsible for the disorder.  (See earlier blog for gene relationship and prevalence).

Most people absorb only enough iron to meet their body’s daily requirements, and the excess is excreted. In hemochromatosis, however, iron continues to be absorbed and stored in different organs and tissues long after the body’s needs are met. The liver is the first organ to store excess iron after which it accumulates in the heart, pituitary gland, and elsewhere in the body. If untreated, the resulting damage to the liver, heart, and pancreas may eventually lead to death.

In hemochromatosis, the total iron content in the body can reach as high as 5000 milligrams, compared with the normal levels below 250 milligrams in women and below 300 milligrams in men. It’s been nicknamed “bronze diabetes” because it may be accompanied by diabetes mellitus and increased skin pigmentation (bronzing or graying of the skin).  [The Bronze Killer,  by Marie Warder, Founder of the Canadian Hemochromatosis Society, may be ordered from the Canadian Hemochromatosis Society website www.toomuchiron.ca]

Because women lose iron in their menstrual flow, they tend to be protected from getting hemochromatosis as long as they are having menstrual cycles. Thus it affects men earlier than women, usually when the men are between their late 30’s and 55 years old.

Causes of Hemochromatosis

Hemochromatosis is usually hereditary. It takes two defective genes, (C282Y) one from each parent, to cause hemochromatosis. Siblings of those affected have a 25% chance of getting it. Both parents must be carriers of the defective gene, which means that a child of a person with hemochromatosis is less likely to have it than the person’s siblings are.  H63D is another gene mutation, when combined with C282Y, that causes hemochromatosis.

Symptoms and Complications of Hereditary Hemochromatosis

Many people with hemochromatosis don’t have any noticeable symptoms. The liver will begin to retain iron at birth, but it may take 20 to 30 years before symptoms appear. Other organs in the body also store the iron; the heart, pancreas, pituitary gland, joint tissues and other vital areas of the body.Early symptoms include fatigue and swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers.

In the later stages of the disease, people may experience:

• abdominal pain or tenderness
• abdominal swelling
• Alzheimer’s disease
• bleeding from dilated veins in the esophagus
• bronze or gray coloured skin
• chronic fatigue
• diabetes (type 2)
• heart disease, arrhythmia, myopathy
• erectile difficulties
• premature menopause
• excessive hunger and thirst
• frequent urination
• liver disease, cancer
• premature menopause
• yellowing of the skin and eyes (jaundice)

If iron builds up in the heart muscle, it may cause irregular heartbeat and heart failure, leading to shortness of breath and swelling of the ankles. If it accumulates in the pituitary gland, it can cause menstrual irregularities in women and sexual dysfunction, loss of sex drive, and erectile difficulties in men.

Other specific organ-related symptoms may include joint pain, abdominal pain due to hepatic enlargement, and diabetes as a result of damage to the pancreas.

Men usually accumulate over 1000 milligrams of iron in their body before symptoms develop. In women, symptoms often show up after menopause and about five to ten years later than in men. This is because menstruation and pregnancy protect them from building up too much iron. Women who reach menopause before the age of 50 often have more iron in their bodies than those who reach it after age 50.

Complications due to hemochromatosis cause the most serious problems; this is why early detection and treatment are essential. Once the condition is advanced, arthritis, cirrhosis, bronze skin pigmentation, diabetes mellitus (occurs in 50% to 60% of people with hemochromatosis), cardiac problems, and heart failure may appear. Pituitary failure is common and may be the cause of testicular atrophy (shrinkage of the testicles) and loss of sex drive, which occurs frequently. Early detection and treatment before the liver is damaged usually allows the person with hemochromatosis to have a normal life expectancy.

If potential life-threatening complications have occurred, such as an enlarged liver and/or spleen or cardiac problems, life expectancy can be increased by treating these complications. Damage caused by cirrhosis of the liver, however, is irreversible, and may lead to cancer.

For more information, become a member or donate to the Canadian Hemochromatosis Society, please visit www.toomuchiron.ca

By Bob Rogers, CHS Executive Director

In Canada, May is Hemochromatosis Awareness Month.  The Mayors of most Canadian cities and the Health Ministers of many provinces formally act to proclaim the need to become aware of hemochromatosis; the most common genetic disorder in Canada. In 2009, it will happen again.

Awareness month began in 1987 when 523 new diagnoses were directly attributed to the efforts of the Canadian Hemochromatosis Society. In some familes two, three or more hemochromatosis victims were found.  In one case, nine members from one family were subsequently found.

The Canadian Hemochromatosis Society knows there are several thousands suffering from hemochromatosis and millions who are affected by it and most are completely unaware they have it.  It’s devastating effect on people and their families will continue to go untested, undiagnosed and untreated unless more awareness about hemochromatosis is done.

The Canadian Hemochromatosis Society is committed to reaching out across Canada and improving the awareness of this potentially fatal disorder.  We know that if we identify one person with the disorder, we can help an entire family.  Would you like to help?

You can make a difference. Explore our website www.toomuchiron.ca and sign up to be a member of the society.  Receive our regular and e-newsletter (email address required on sign-up).  Donate to the society.  The Canadian Hemochromatosis Society is a registered charitable non-profit organization.  All those who contribute membership fees and donations receive a income tax receipt.  By doing these things you become a part of the solution; to prevent needless suffering and early death from hemochromatosis.

Once you become a member, there is another way you can help.  We really enjoy receiving ideas and suggestions from our membership how we can spread the word more effectively.  We have volunteer opportuntites.  Please get involved by contributing your time, energy and resources now.

Write me at brogers@toomuchiron.ca or call 1-877-BAD-IRON

Thank you

Carrie in Moncton, NB writes:

What positive combinations of genes cause iron overload (hemochromatosis)?

Dear Carrie,

There are several positive combinations resulting from the HFE genetic test:

• C282Y / C282Y - homozygous for the HFE Type 1 Hemochromatosis.  The majority of hemochromatosis individuals have this combination, with severe biochemical iron overload occuring in most, if not all, of the individuals.
• C282Y / H63D -compound heterozygous for HFE Type 1 Hemochromatosis.  Significant iron overload occurs in only 15% of these individuals.  In the other 85%, the iron overload is generally much less severe.
• H63D / H63D - homozygous for HFE Type 1 Hemochromatosis.  Iron overload is unusual, with not much chance of organ damage, although other (genetic and environmental) factors may play a role.

A positive HFE genetic test will implicate other family members who should be tested.  First degree relatives (parents, siblings and children) are at risk of being carriers of the HFE gene, or inheriting both abnormal copies of the HFE gene and developing hemochromatosis.

Bob Rogers
Executive Director
Canadian Hemochromatosis Society
www.toomuchiron.ca

*Note: When responding to a health related question, this information is intended for general guidance only. The Canadian Hemochromatosis Society disclaims for itself, and for the author of this information, all responsibility for any misstatements or for consequences of actions taken by any person while acting on information contained herein. Physicians and patients must make their own decisions about therapy according to the individual circumstances of each case.