Canadian Hemochromatosis Blog

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

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

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

Bob Rogers
Executive Director
Canadian Hemochromatosis Society

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.

“I have been recently diagnosed with Hemochromatosis. My Rheumatologist has told me my iron level is normal however a recent study has shown that iron does not need to be a factor in diagnosing Hemochromatosis.I have Lupus and the Rheumatologist feels the arthritis in my hands is not caused by Lupus.My fingers have started to fuse together.Please Help. Many Thanks Diane MacIntosh”

Blood tests known as Serum Ferritin (SF) and Transferrin Saturation Percentage (TS%) reflect how much iron is in the body and how much is being transported and stored.  Currently these tests are not part of a general medical checkup.  If you are showing symptoms, please ask your Doctor to do these tests (which must be specifically requisitioned - suspecting hemochomatosis) and ask your doctor for a photostatic copy of the results of the test.

A normal serum ferritin result varies with age and gender. An abnormally high ferritin will be highlighted on the lab test as out of range.  Ferritn is a non-specific test and can be elevated for other reasons than hemochromatosis.  A level of more than 200 ng/ml for women and 300 ng/ml for men is considered out of range.

A normal transferrin saturation (TS) is typically 25-40 % saturation. Anything greater than 45% saturation requires further investigation.  TS is more specific to hemochromatosis but is still considered a screening test and on its own does not confirm hemochromatosis.

If both serum ferritin and transferrin saturation come back abnormally high, or even high normal, further work up is required. Additional diagnostic testing can be done including genetic testing for the HFE gene.

Arthritis is a known effect of too much iron (hemochromatosis) in the body and tissues. Many others have reported joints fusing together throughout different parts of the body including, fingers, knees, ankles and hip degeneration.

You indicate in your post that your doctor has confirmed a diagnosis of hemochromatosis.  Are you currently in treatment for it which initially is deironing by phlebotomy (blood-letting)?

Bob Rogers
Executive Director CHS

A blog post by a husband (Phillip) currently serving in the armed forces in Iraq…

“Some of you know that Jessica has been sick off and on for the last year or more… the doc had diagnosed her with hypothyroidism, and put her on medication for 8 weeks before retesting and realizing that she didn’t have that disease.

A little while ago she got a kidney infection which led to some more testing with a different doc who thought she had a blood disease. They tested her for low iron in her blood, since that’s very common with people who have celiac disease, but they found that she has very high levels of iron instead. Latest diagnosis is that she has hemochromatosis - a disease where the blood doesn’t properly dispose of the iron in the blood. Eventually the blood starts depositing the iron into organs, such as the pancreas, heart, liver.

We’re not sure right now if there has been any damage to her organs. At the very least, she’ll need to get a pint of blood taken out once or twice a week for a year, then every 1-4 months after that and they should be able to keep it stabilized. She will go to a specialist when they can get her in- probably in a couple of weeks. The specialist will probably end up doing an endoscopy, colonoscopy, and liver biopsy.

I just wanted to let you all know what’s going on and ask that you keep Jess in your prayers. Her parents only live an hour and a half away, so they have been helping her out. I have been able to talk to her just about every day.”
Posted Friday February 13^th 2009 - by The Cain Family - http://thecainnews.blogspot.com/

Dear Cain Family…

I am moved by your circumstances and your request for prayer for Jess. Her recent diagnosis of hemochromatosis is likely the underlying cause of many of the diseases she is facing. The good news is that she has been diagnosed and her physicians are continuing to do the diagnostic procedures to better establish her current condition.

I want you, Jess and her first relatives to go to our website and become well acquainted with this condition and what all of them need to know. Hemochromatosis is a hereditary disorder. This means that Jess’s parents are AT LEAST carriers of ONE of the two mutated genes that cause HHC. One of her parents may have both copies and thereby be at risk for the HHC too.

ALL FIRST RELATIVES, Jess’s parent’s siblings, their children, your children, Jess’s siblings ALL need to be genetically tested. This is the medical protocol in the USA and in many places around the world. You are looking to discover whether you have both copies of a gene called C282Y or H63D.

Also, since you have a blog and a heart for others… please feel free to spread the word about this disorder to your friends. One in 300 people in North America have this disorder and one in 9 is a carrier of one of the mutated genes.

I will watch your blog with interest and your family will be on my mind and heart.

Bob Rogers
CHS Executive Director

Dear Doctor Bortolussi,

Please forgive the impertinence of an amateur like myself, in taking the liberty of commenting on your excellent article. However, having devoted more than thirty years of my life to the well-being of families with Hemochromatosis, I do believe the omission of ‘persons with iron overload’ among your list of those most at risk, to have been an oversight.

If, as the experts tell us, iron is an essential growth factor for the multiplication of most bacteria, viruses, and even some cancers, it explains why the  people I personally know of ,who were afflicted with Listeriosis from eating unpasteurized soft cheeses, were hemochromatotic; as was one who nearly lost his hand because of Pasteurella from a cat bite.

In a 1986 issue of “Among Ourselves”, the newsletter of the Canadian Hemochromatosis Society, we printed the following:

“ Warnings have been issued in a number of medical journal articles, including one in the April 1985 FDA Drug Bulletin, to patients with chronic liver diseases (including hemochromatosis) not to eat raw clams or oysters, and undercooked seafood, and — in the event of open wounds—to avoid bathing in salt water because of the danger of a virulent Vibrio bacteria (Vibrio Vulnificus). Treatment with tetracycline is specific.

In a letter to the editor of JAMA, June 19, 1987-Vol 257, no 23, the writers, Claudio Chiesa  MD, Lucia Pacifico MD, Francesco Renzulli MD, and Mario Midulla, MD, of La Sapienza University of Rome, and Laura Garlaschi MD, of  the University of Milan, reported: “From 1978 to 1986, in Italy, almost all cases of severe clinical disease due  to Yersinia enterocolitica septicemia, developed in subjects with iron overload.” with hemochromatosis. Therefore, when confronted with this unusual problem, the diagnosis of hemochromatosis should be entertained.”

It is my personal contention that, in situations like the Walkerton E-coli outbreak, and the developing salmonella problem, hemochromatotics should always be considered to be at great risk. In fact, iron stores - particularly the Transferrin Saturation Percentage - should be monitored in all afflicted indivuduals. Not only would this be good for the patient (as in the case of patients treated with Interferon), but it would provide researchers with an invaluable opportunity for research.

Sincerely,

Marie Warder, CVMH CVCH
Founder and President Emeritus: Canadian Hemochromatosis Society

Volume I, Number 3

By Lynn Philip Hodgson

Mr. X died of natural causes at age seventy-eight; sounds reasonable, that’s basically the life expectancy of a man living in Canada today. But was it natural causes? After all, he had never been sick a day of his life. Over time, he began to experience strange symptoms; strange because it wasn’t like him to be so tired all of the time. He suffered with joint pain due to arthritis, but everybody his age has some type of arthritis, don’t they? He had mood swings, memory confusion at times, loss of libido, the odd bouts of abdominal pain and a strange bronzing of the skin; the latter he didn’t mind as it gave him an all year round tan. Nothing at all to be concerned about, he thought.

Mr. X had worked hard all of his life and was enjoying retirement, golfing in the summertime, heading south in the winter; life was grand until that fateful day when his heart became erratic and caused his death. Heart failure they said, as they moved his lifeless body onto a gurney for the short distance to the elevator, which would take his remains down to the morgue. A trip taken so many times before him by people with similar conditions. But was it heart failure, or some other hidden set of circumstances that could have been avoided?

My story started with a routine check up; the doctor suggested a series of blood tests based on symptoms that I had described to her. The blood work came back abnormal and she had recommended a treatment for me. After a follow-up appointment a number of months later, a further blood test was done with similar results; there had been no change. The doctor was puzzled, what could be causing these results?

About a month later I received a phone call from the doctor’s nurse, please come in right away for a further test; did the doctor know what was causing my symptoms or did she simply have a hunch? Several weeks after the test, I was once again summoned to the doctor’s office. The results were in; I had Hereditary Hemochromatosis. What was that I asked? To make a long story short, and to put it in laymen’s terms, I was suffering from iron overload. It doesn’t sound ominous, certainly nothing to worry about, I mean, you can’t die from it; or can you?

In 1996, a California doctor discovered through DNA testing, a defect in C282Y and H63D on the HFE gene. This is Hemochromatosis, an iron overload, which can cause disease in vital organs, as it accumulates in the organs, joints, and tissue of the body. In fact, 1-300 Canadians are walking around with the disease and in most cases they are totally oblivious of having it. Even more shocking, 1in 8 people from a small section of the U.K., specifically, approximately 100 miles on either side of the Scottish/English border, have the disease. For this reason, both my wife and I have Hereditary Hemochromatosis. If you are tested positive for HHC, your family should be tested, as there is a likely chance that some of them will be positive as well. In my case, just one of my daughters has been tested and she is positive.

The facts are hidden in simple numbers; my Ferritin count (iron) was 2,769; what should it be I asked? It should be below 300, she replied. The normal Ferritin count for a woman is below 200 ng/ml and 300 ng/ml for men. Damage to major organs can occur in people with counts above 1,000 ng/ml. I was sitting at 2,769; what can be done about it I asked? The answer, “phlebotomies,” she replied.

A phlebotomy is the technical name for bloodletting or the purging of blood. The treatment will be determined by your doctor but could range from once a week to once per month. In my case, my age was a factor so I was put on a once a month regiment for the first year, with the procedure being done at our local hospital. After a year, my numbers had come down, but not enough. In fact, they started going back up! My schedule was switched to every three weeks and that resulted in an immediate improvement. The following is my actual chart numbers. With what you now know about HHC, scary isn’t it?

Date Count Range

April 26, 2006 2,769 Abnormal

Sept. 13, 2006 1,804 Abnormal

Nov. 21, 2006 1,127 Abnormal

Jan. 24, 2007 902 Abnormal

Mar. 31, 2007 982 Abnormal

May 19, 2007 748 Abnormal

Jun. 23, 2007 952 Abnormal

Oct. 13, 2007 585 Abnormal

Dec. 7, 2007 229 Normal

Feb. 23, 2008 90 Normal

Apr. 4, 2008 79 Normal

It’s ironic that the last test showing a normal result, April 4th, was exactly sixteen years after the date of my father’s death; a death that I believe was a result of a lifetime with the ‘Silent Death’ disease.

The above chart is based on test results of follow-up blood work, which should be done regularly in order for the doctor to properly analyze your progress, to determine whether or not you need to decrease or increase the number of phlebotomies.

In conclusion, I am certain that HHC took the life of both my father and mother, prematurely. I will need to have regular phlebotomies for the rest of my life. Others in my family, including all grandchildren, will have to be tested. But thanks to this particular doctor who had the foresight to look further, I’m keeping my fingers crossed that she caught it in time and the ‘Silent Death’ will not strike me.

For more info on HHC see: www.toomuchiron.ca

Volume 1, Number 2

Hemochromatosis Awareness Month - May, 2008

Hemochromatosis is the most common genetic disorder affecting Canadians today. Caused by a defect of iron metabolism, those affected may retain excess iron in vital organs, joints and tissues. This has serious health consequences for those affected.

During the month of May, I encourage Canadians to learn about this little-known genetic disorder. The goal this year is to identify 1,000 at-risk families. One in every 300 Canadians is at risk for Hemochromatosis and one in nine in the general population are carriers of one of the gene mutations.

Iron is essential to maintain human health. It carries oxygen to cells. A deficiency in iron can result in fatigue, poor work performance, and decreased immunity. On the other hand, excess amounts of iron can result in toxicity and even death.

Some symptoms of Hemochromatosis are chronic fatigue, joint pain and arthritis, bronzing or greying of the skin, loss of libido, thyroid problems, elevated glucose and triglyceride levels, enlarged liver and cirrhosis and irregular heartbeat. Complications caused by iron storage can include diabetes mellitus, hepatic dysfunction, arthritis, skin pigmentation changes and congestive heart failure.

Hemochromatosis is the only inheritable disorder in which all the complications are preventable by early diagnosis and treatment. A simple blood test by your health professional can be ordered to diagnose this disorder and effective treatment is also readily available.

Hemochromatosis can also be acquired by patients affected by other chronic diseases who routinely receive repeated blood transfusions, as this can lead to an overload of iron. However, Canada is one of the few nations with a federally coordinated blood transfusion surveillance program and is recognized internationally as a leader in hemo-vigilance.

I would like to thank the Canadian Hemochromatosis Society for creating awareness about this little-known, but common disorder, and for providing information and support to those adversely affected by iron overload.

Tony Clement
Minister of Health
Government of Canada

Volume 1, Number 1

Very Common, Yet Virtually Unknown

Potentially Fatal, Yet Easily Treatable

Hemochromatosis - Canada’s Most Common Genetic Disorder

A Message from Bob Rogers, Executive Director of the Canadian Hemochromatosis Society

Hereditary Hemochromatosis (HHC) is the most common genetic disorder affecting Canadians. It is a crippling, potentially fatal condition caused by a defect of iron metabolism that leads to iron overload in vital organs, joints and tissues. The complications caused by the disorder are preventable if a diagnosis is made before the excess iron causes irreversible damage, and effective treatment exists.

The prevalence of Hemochromatosis is one in 300 in the general population and one in 9 are carriers of one of the genes responsible for hemochromatosis. This means at least 100,000 Canadians have the genetic make-up to develop the most common form of hemochromatosis.

Treatment involves the regular removal of blood (a phlebotomy) which is like a regular donation but with a higher frequency. As the body makes new blood cells to replace those lost during phlebotomy, iron is pulled out from storage from the organs, tissues and joints and, over time, body iron levels return to normal.

Our Purpose

The Canadian Hemochromatosis Society was established to create awareness about this little-known, but common disorder so that early diagnosis would become the rule rather than the exception and needless suffering and premature death from undiagnosed hemochromatosis would become a thing of the past. In the meantime, we are here to provide information and support to those adversely affected by iron overload.

What this Blog will aim to do

Each week we will publish more information about Hereditary Hemochromatosis (HHC) and how it affects people across Canada. We will provide video, pictures, personal testimonies, news coverage, special events, and anything vital to spreading the word.

We believe that the more we can do to increase the awareness of this disorder and publicize the information, we will eventually ensure that everyone in Canada will know about this disorder and receive the medical care and attention they require.

For more information go to our website which is: www.toomuchiron.ca.