What are inherited bleeding disorders?
Inherited bleeding disorders are lifelong genetic conditions in which blood doesn’t clot normally.
- platelet function disorders
Bleeding disorders affect people from birth, though in some cases serious bleeding does not occur until a person has an accident, surgery or goes through childbirth.
Inherited bleeding disorders are caused by a mutation in one of the genes that controls the production of specific blood proteins, essential for clotting.
These disorders affect both males and females.
How many Canadians are affected?
One in 100 Canadians carry an inherited bleeding disorder gene, and 1 in 10 of these, or 35,000 Canadians, have symptoms severe enough to require medical care.
- Hemophilia A and B affect 3,000 Canadians.
- Von Willebrand disease affects another 30,000 to 35,000 Canadians though many remain undiagnosed
- Rare factor deficiencies affect about 1,000 people in Canada.
- The number of Canadians affected by inherited platelet function disorders is not precisely known, and many remain undiagnosed.
What are common symptoms of bleeding disorders?
Symptoms of bleeding disorders vary depending on the specific disorder. They include…
- bleeding into joints, especially knees, elbows and ankles (especially in hemophilia)
- bleeding into soft tissues and muscles
- easy bruising
- frequent, prolonged nose bleeds
- bleeding from the gums when baby teeth fall out or after tooth extractions
- abnormal bleeding after surgery, childbirth or trauma
- heavy, prolonged bleeding during menstruation (menorrhagia)
- bleeding from the umbilical cord stump after birth
- cerebral hemorrhaging.
What is hemophilia?
Hemophilia is a lifelong, hereditary disorder. In 1 out of 3 cases, there is no history in the family; the cause is a new genetic mutation. Thus hemophilia can affect any family. The two types of hemophilia, A and B, affect 3000 Canadians.
People with hemophilia A have low levels of a specific blood protein called factor VIII. People with hemophilia B lack factor IX.
The blood of people with hemophilia doesn’t clot normally. They don’t bleed more profusely or more quickly than others… but for a longer period if not treated. External wounds are usually not serious. Far more important is internal bleeding into joints and muscles. Untreated, this is excruciatingly painful and leads to severe crippling. When bleeding occurs in a vital organ, especially the brain, it can be fatal.
Clotting factors and other drugs are usually effective in treating people with hemophilia. Children can grow up to lead full lives. But these drugs are not a cure! And in about 30% of people with severe hemophilia, the immune system rejects the clotting factors infused to stop or prevent bleeding. This complication, called an inhibitor, can be very serious.
The most severe forms of hemophilia affect almost only males. Women who are carriers, however, often have mild symptoms and can have bleeding problems that affect their quality of life.
I have a defect in one of my genes. My blood is missing a tiny protein, called factor 8. My blood doesn’t clot normally. I don’t bleed a lot from cuts, but I do bleed into my joints, especially my knees, ankles and elbows. That’s why I can’t play hockey like my hero, Sidney Crosby.
- An 11-year-old boy with hemophilia A
For more information, see www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-and-b
What is von Willebrand disease (VWD)?
Von Willebrand disease (VWD) is the most common inherited bleeding disorder.
One in 100 Canadians (300,000 people) carry the gene for von Willebrand disease. Symptoms affect an estimated 30,000 to 35,000 Canadians, both male and female. Many of these people have yet to be properly diagnosed. Life-threatening hemorrhaging can occur after childbirth, surgery or trauma.
A woman’s quality of life can be more seriously affected. Heavy menstrual bleeding can lead to hysterectomies. These can be avoided if the woman is properly diagnosed and treated.
Effective treatments exist for von Willebrand disease.Von Willebrand disease is my constant companion. I have worried about it most of my life, although I never even knew I had it until a few years ago. I lived under a cloud of fear. When I was three, my six-year-old brother hemorrhaged to death following a tonsillectomy. Thanks to the CHS, I now have the information I need.
- A 60-year-old woman with von Willebrand disease
For more information, see www.hemophilia.ca/en/bleeding-disorders/von-willebrand-disease/
What are rare factor deficiencies?
A small number of Canadians, about 1000, suffer from rare factor deficiencies. These people have low levels of a specific blood protein, either factor I, II, V, VII, X, XI, or XIII. Like hemophilia and VWD, these are genetic conditions for which there are treatments but no cures.My daughter was diagnosed with a bleeding disorder when she was 3 years old. She has lots of bruising and needs intravenous infusions of blood products every 3 weeks to prevent cerebral hemorrhaging.
- Mother of a young girl with factor XIII deficiency
For more information, see www.hemophilia.ca/en/bleeding-disorders/other-factor-deficiencies/
What are platelet function disorders?
There are many different kinds of platelet function disorders. In these disorders, blood platelets do not function normally, resulting in blood not clotting properly. In some individuals, bleeding can be severe.
Some people have no symptoms at all until they have a serious injury or surgery. As with von Willebrand disease, many cases go undiagnosed for decades.
For more information, see www.hemophilia.ca/en/bleeding-disorders/platelet-function-disorders/
Where should people go for diagnosis and treatment?
The diagnosis of inherited bleeding disorders can be complex. Treatment is specialized. If you suspect you or your child have a bleeding disorder, contact one of Canada’s 25 specialized treatment centres.
For a list of treatment centres, see www.hemophilia.ca/en/treatment-centres.
What does the future hold?
The Canadian Hemophilia Society has a dream — a cure for hemophilia and other inherited bleeding disorders.
That dream is not a fantasy. It may become reality within the next decade if we can hasten the pace of research. Gene therapy research is being conducted in Canada and elsewhere in the world. Trials with humans are already underway. The goal is to discover a way to help the body produce its own supply of clotting factor proteins.
Research in other areas may lead to advances before a cure. Scientists are looking for ways to prevent children from developing inhibitors to clotting factors, a very serious complication. Others are hoping to find a technique to make clotting factor proteins last longer in the bloodstream, thereby reducing the 3-times-a-week infusions that make care so difficult.
It is never easy to predict when the research breakthrough will occur. But we sense that it is close. And the CHS will not rest until that breakthrough comes… and a cure is found… making our dream a reality.I’m not so lucky. I have an inhibitor. The clotting factor treatments don’t work for me. My body rejects them. I’ve had lots of bleeds in my joints. Bleeds hurt.
- A 13-year-old boy with hemophilia BBLEEDING DISORDERS ARE LIFELONG CONDITIONS.
THERE ARE NO CURES…YET.
What is the role of the Canadian Hemophilia Society?
The Canadian Hemophilia Society (CHS) is a national voluntary health charity. Our Mission is to strive to improve the health and quality of life for all people with inherited bleeding disorders, and to find a cure.
Our national offices are in Montreal and Toronto, and we have 10 provincial chapters with provincial offices located in Quebec, Ontario and Manitoba. The CHS has hundreds of active volunteers and 20 staff across the country. We are affiliated with the World Federation of Hemophilia, which is officially recognized by the World Health Organization.
The CHS works in close collaboration with healthcare providers in Canada’s 25 bleeding disorder treatment centres, the blood system operators (Canadian Blood Services and Héma-Québec) and community organizations which share our interests.
Our Vision is a world free from the pain and suffering of inherited bleeding disorders.
What are the Canadian Hemophilia Society’s strategic priorities?
Care and Treatment
We work in close collaboration with medical professionals—physicians, nurses, physiotherapists, social workers, and other related specialists—in the 25 bleeding disorder treatment centres across the country. Our common goal is to ensure optimal multi-disciplinary care and treatment for all members of the family. We define this as comprehensive care.A PRIORITY FOR THE CHS IS EQUITABLE ACCESS TO THE HIGHEST QUALITY OF CARE IN ALL PARTS OF CANADA!Research
We provide clinical and research fellowships and we fund leading Canadian researchers working in the field of bleeding disorders in an effort to improve care and treatment, and ultimately find a cure. Support and Education
The CHS is the primary source of educational materials designed for people with bleeding disorders, their families, health care professionals and the general public, and is renowned for the quality of its programs and publications. Our Web site is recognized as the most comprehensive in the world.Safe, Secure Blood Supply
In the 1970s and 1980s, 700 Canadians with hemophilia were infected with HIV from tainted blood. Two-thirds of these people have passed away. In addition, 1600 were infected with hepatitis C. The CHS played a key role in building a safer blood system for Canadians, leading to the creation of Canadian Blood Services and Héma-Québec. We continue our vigilance as the watchdog of the blood system on behalf of all Canadians, so that if you ever get into a car accident or have surgery and need blood, you know it is as safe as possible! Our experts serve on Canadian Blood Services and Héma-Québec committees and monitor blood safety nationally and internationally.THE CHS STRIVES TO ENSURE A SAFE AND SECURE BLOOD SUPPLY FOR ALL CANADIANSInternational Development
– The Canadian Hemophilia Society and its dedicated teams of volunteers and health care professionals support their counterparts in developing countries to improve care and treatment. Currently we have twinning partnerships in developing countries around the world.
For more information about the CHS, see www.hemophilia.ca/en/about-the-chs
How can you contact us?
National OfficeCanadian Hemophilia Society
301-666 Sherbrooke Street West
Montreal, Quebec H3A 1E7
For a complete listing of our provincial chapters, see www.hemophilia.ca/en/about-the-chs/to-contact-us/