National Communications Manager, Canadian Hemophilia Society
Hemophilia is a serious inherited bleeding disorder preventing blood from clotting normally. It affects 3,800 Canadians, one-third of whom have the severe form of the disease. Some of them lack a protein called factor VIII; this is hemophilia A. Others lack a protein called factor IX; their disease is called hemophilia B.
Starting in infancy, patients can have frequent, painful, and debilitating internal bleeding, especially into joints and muscles, often without prior injury. Without effective treatment, this leads to severe joint damage and crippled limbs. Current treatment with factor VIII or factor IX recombinant concentrates (not derived from human plasma) requires intravenous infusions two to seven times per week.
Starting in infancy, patients can have frequent, painful, and debilitating internal bleeding, especially into joints and muscles, often without prior injury.
A new treatment for hemophilia A, emicizumab, is the first in a series of potential treatment breakthroughs. It is a monoclonal antibody that mimics the function of factor VIII in the coagulation process. It is injected subcutaneously—a quick and painless procedure—once a week or even less. What a difference that can make in the lives of people with hemophilia, especially children! Unfortunately, delays by governments mean that it is not yet available to all who need it in Canada.
From plasma transfusion starting in the 1930s to cryoprecipitate in the 60s and then plasma-derived clotting factor concentrates in the 70s, the progress achieved in treatment for hemophilia has led to improvements in health, quality of life, and life expectancy of people with inherited bleeding disorders. Imagine: 68 years ago, when the Canadian Hemophilia Society (CHS), the patient organization representing all those affected by bleeding disorders, was founded, the life expectancy for a person with severe hemophilia in Canada was less than 20 years; today, it is only slightly lower than that of the average Canadian!
When providing an overview of progress in hemophilia care, we cannot overlook the 1980s tragedy of HIV and hepatitis C in blood products that cost the lives of so many people with hemophilia. It was a major setback in care and treatment. The introduction of recombinant factor concentrates in the 90s was a new beginning for the bleeding disorder community and a significant step towards rebuilding trust in treatments.
The arrival of transformative therapies like emicizumab is yet another milestone, proving that the research, development and marketing of safer and more effective coagulation products play a crucial role in the health and quality of life of people with bleeding disorders.
We certainly have not seen the last of important breakthroughs in care and treatment for hemophilia and other bleeding disorders. Will there be more great improvements in treatments? Will gene therapy be the next great advance? No matter what the future holds for people suffering from inherited bleeding disorders, the CHS will be there to make sure that no one is left behind when it comes time to having access to life-changing therapies.