Sickle Cell Disease and Thalassemic Disorder Inquiry-Debate Adjourned


Inquiry: The Need for Improvement of the Management of Sickle Cell Disease and Thalassemic Disorders in Canada Senator Jane Cordy October 29th, 2014

Hon. Jane Cordy rose pursuant to notice of June 19, 2014:

That she will call the attention of the Senate to sickle cell disease and thalassemic disorder and the importance of screening to identify infants with sickle cell disease and the need for improvement of the management of sickle cell disease and thalassemic disorders in Canada.

Hon. Jane Cordy : Honourable senators, according to the Sickle Cell Disease Association of Canada, nearly 2,000 Canadians live with debilitating and sometimes life-threatening sickle cell disease. Although the numbers will vary from one province and territory to another, they report that 1 in every 2,500 children in Canada will be born with this condition. In the United States, sickle cell disease is actually the most common genetic disease.

Honourable senators, what is sickle cell disease? Sickle cell disease, or sickle cell anemia, refers to a group of inherited red blood cell disorders. The three most common forms of sickle cell disease in North America are hemoglobin SS or sickle cell anemia, hemoglobin SC disease and hemoglobin sickle beta thalassemia.

Sickle cell disease is caused by an abnormal form of hemoglobin, the molecule in red blood cells which carries oxygen throughout the body. With sickle cell disease, the red blood cells become deformed and the abnormal hemoglobin is not able to work properly. Normal red blood cells are donut-shaped and they easily move through the body's blood vessels, delivering oxygen to the organs. In patients with sickle cell disorder, the red blood cells become stiff and sickle-shaped, hence the name sickle cell disease.

The sickle-shaped blood cells do not function like the healthy red blood cell. The deformed cell does not flow easily through the blood vessels and can get caught up in the vessels and break apart. This can result in clogged blood vessels and low red blood cell count, known as anemia.

A normal healthy red blood cell can carry out its job for 120 days, whereas a sickle-shaped cell has a life span of only 20 days. The one-two punch of clogged blood vessels and low red blood cell count drastically hampers the body's ability to deliver adequate oxygen to the organs. The continued starvation of oxygen to the body's systems most commonly manifests itself as severe pain, especially in the bones, but it can also cause damage to shoulder and hip joints, or chest pain from acute chest syndrome.

There are also a lot of problems that may include damage to the lungs and the heart — such as heart failure or pulmonary hypertension — to the kidneys, liver and eyes, and also stroke, leg ulcers and infections. Because it can damage just about every organ in the body, sickle cell disease is known as a multi-system disorder.

Anyone can have sickle cell disease, but for some unknown reason, it is drastically more prevalent in people who have descended from Africa, the Mediterranean, the Caribbean, the Middle East, Southeast Asia, the Western Pacific region, South America and Central America.

In Canada, the Sickle Cell Awareness Group of Ontario conducted a study that showed 32 out of 40 African-Canadians are carriers of the sickle cell trait. This does not mean they have a sickle cell disorder, but they can pass it on to their children if both parents are carriers of the sickle cell trait.

Sickle cell disease is not contagious. You cannot catch it. You inherit it from your parents. To have sickle cell disease, a person must inherit one sickle cell gene from one parent and one sickle cell gene from the other. If a child inherits a sickle cell gene from one parent and a healthy gene from the other, they will be a carrier of the sickle cell trait and may pass it on to their children, but will not have - and never will have - sickle cell disease themselves.

There is no known cure for sickle cell disorders. Treatment consists of managing symptoms of the disease through penicillin to fight infections in children, blood transfusions and a drug called hydroxyurea. Both transfusions and hydroxyurea can have serious side effects, but research is finding that lifestyle changes, such as regular exercise, a healthy diet and not smoking, can have a positive effect on quality of life. Reducing the amount of stress in a patient's life has also shown to be important. Honourable senators, I would suggest that these are things that we should all be doing.

Because of the lack of oxygen travelling throughout the body, including to the brain, children with sickle cell disorders often struggle in school with fatigue, loss of concentration and memory lapses. It is important for teachers to be aware of these symptoms and tailor their teaching accordingly.

Infections can also be a major complication of sickle cell anemia, especially during childhood. Early diagnosis is extremely important so that children can be closely monitored by family and medical personnel.

Because of their relative rarity, most clinicians have limited experience and expertise with sickle cell disorders. When patients come in with conditions associated with sickle cell disease, doctors may not think to test for the disease. This can lead to misdiagnosis and ineffective treatments and, in some cases, because of the persistent pain and desire for pain management medications, it is not uncommon for doctors to dismiss the patient as one just wanting painkillers.

I heard a mother talk about her son, who was in severe pain at the hospital and requesting morphine. Because he had not been diagnosed and the medical provider was not familiar with sickle cell disease, the provider was unsure if the patient was a junkie.

Something as easy as a simple blood test at birth would help prevent misdiagnosis and would provide medical personnel with the information needed to properly treat the patient. Universal screening for sickle cell disorders now occurs in every state in the United States, something that only three provinces in Canada do: Ontario, British Columbia and my province of Nova Scotia, which started the testing in April of this year. The screening would provide so much information to the health care provider and to the patient. Early diagnosis would mean ongoing care from birth.

Recently, a new set of national guidelines for managing sickle cell disease was published in the Journal of the American Medical Association. This national approach to the disease is something that is sorely missing in Canada. Guidelines for universal screening would identify sickle cell disease and other blood disorders, and would also identify carriers.

Optimal treatment and management of sickle cell disease requires knowledge and understanding of the disorder, not only by medical personnel but also by the patient and their family.

The logical first step is proper diagnosis. I believe that the most effective way to accomplish this is to screen every child born in Canada for the disorder. This lack of knowledge can lead to years of undiagnosed suffering and irrevocable damage to organs or even to death. A simple, inexpensive test can set a management program in place from day one.

Managing sickle cell disease is a lifelong process. The best place to start is with early diagnosis. When a child is born with sickle cell disease, it's impossible to predict which problems will develop, when they will start or how bad they will be. During the first six months of life, infants have a high level of fetal hemoglobin in their blood, which protects them from red blood cell sickling. But dangerous complications of sickle cell disease may quickly develop between ages six months and five years, after levels of fetal hemoglobin decrease. Infection is a major concern for children with sickle cell disorders and an immediate regimen of daily penicillin is required to help manage infection.

Older children and adults with sickle cell disease may have few problems, or they may have a pattern of ongoing complications, such as organ failure or stroke that can shorten their life. Stroke affects around 10 out of 100 children who have sickle cell disease.

Screening all newborns will arm families and doctors with the information needed to develop a plan of action to manage the disease, and this can save lives.

Universal screening for sickle cell disorders of all Canadians will also provide doctors and researchers the ability to track the disease and, because it is genetic, it can be tracked. It will also provide those who are planning a family with valuable information about their risk of having children with sickle cell disease.

Currently, all provinces and territories do have newborn screening programs in place. However, the disorders and diseases tested vary significantly from one province to another.

Like Canada, the disorders and genetic diseases screened at birth in the United States are determined by individual jurisdictions - in their case, individual states. But unlike Canada, the United States does have a federal advisory group. The individual states look to this federal advisory group for guidance in health care policy. When it comes to newborn screening, most states do not just meet the federal recommendations, they exceed them.

The United Kingdom also has a national program for newborn screening protocols, which is uniform across all jurisdictions, with the exception of Northern Ireland. Northern Ireland actually goes a few steps further, testing for additional disorders.

Honourable senators, we need leadership and guidance from the federal level of government to coordinate and help manage sickle cell disease and thalassemic disorders in Canada. Ideally, Canada should be developing a comprehensive national strategy for patient care for those with sickle cell disorders.

Realistically, a good place to start would be for the federal government to work with the provinces and territories toward the creation of a national list of diseases to be screened at birth. Provinces and territories could then draw up their own policies, taking guidance from this national standard.

Ensuring equal access to equal care is a fundamental right of every Canadian, and setting national benchmarks and standards is a simple way to help meet this goal.

I understand and fully appreciate the autonomous role that each province and territory has over the delivery of health care in their jurisdictions, and I strongly defend their right to have that, but I also believe there is a role — no, an obligation — for the federal government to provide leadership and act as the facilitator of change when it comes to health care in Canada. Canada is a stronger nation when we work together, and federal leadership is the mechanism through which we accomplish this.

Because of the rarity of the condition, sickle cell disease is woefully misunderstood by many medical professionals in Canada, which leads to misdiagnosis and unnecessary suffering by patients. Screening of newborns will eliminate the mystery surrounding patients with the disorder and will establish early recognition and management of the disease. The longer a child goes undiagnosed, the greater the chance of permanent organ damage or episodes of severe pain, stroke or possibly death.

Honourable senators, we are a diverse country. People from around the world have chosen to make Canada their home. As I said earlier, sickle cell disease is particularly common among those whose ancestors come from Sub-Saharan Africa, India, Saudi Arabia and Mediterranean countries. As people from these areas come to Canada, we should be aware of this inherited blood disorder. It is important that the public, and particularly health care providers, become more knowledgeable about sickle cell disease. It is also important that there is collaboration with the government agencies, health care providers, researchers, community leaders and families affected by the disease.

I would like to congratulate the Sickle Cell Disease Association of Canada. The association will be two years old on November 9 of this year. It is the Sickle Cell Disease Association of Canada, in the absence of federal leadership, which is working hard toward ensuring universal screening for all newborns in Canada. Let us help them by becoming advocates on their behalf.