NEWBORN SCREENING (NBS)
What is Newborn Screening?
Newborn screening for sickle cell disease is a vital tool to ensure that babies born with this disease are identified and placed on life saving treatments.
Since 1986, research evidence has been generated in support of the benefits of newborn screening for sickle cell disease. Early diagnosis accompanied by penicillin prophylaxis, appropriate vaccinations and parental education is effective in preventing early mortality and severe morbidity in children born with this life-threatening disease.
Newborn screening is the process of testing newborns for specific disorders. Shortly after a baby is born, a doctor or nurse takes a small blood sample from the heel of the baby’s foot. The sample is sent to a laboratory, where it is tested for a number of disorders. One of the tests may look for sickle cell disorder.
Importance of screening for SCD
Early diagnosis for sickle cell disease through newborn screening allows for immediate intervention and treatment. Early interventions have been shown to prevent early mortality and severe morbidity in children born with this life-threatening disease. It may reduce hospitalizations and increase life expectancy. Ultimately, newborn screening can lead to longer, healthier lives;
Without newborn screening, newborns may suffer irreversible damage to health and
Without newborn screening, affected individuals may suffer recurrent infection, debilitating pain, anemia and chronic organ damage including stroke, kidney & respiratory failure.
Sickle Cell Awareness Group of Ontario
SCAGO was one of the sickle cell groups that lobbied the Ontario government to include SCD in its newborn screening program. We are pleased that every baby born in Ontario with sickle cell disease will be identified early for improved care and treatment.
Newborn Screening in Ontario (NBS)
In 2006, Ontario became the first province in Canada to implement universal newborn screening for SCD in Canada. For more information on NBS; visit:http://www.newbornscreening.on.ca/bins/content_page.asp?cid=6-12
Ambulance, Emergency Room, and Triage
In Canada, quite often sickle cell patients are transported to the nearest hospital. However, ambulance staff should transport patients to an emergency facility with knowledgeable staff or where patient has prior history and very comfortable.
While cell patients are frequently seen in emergency rooms for evaluation of new symptoms and for pain management. These patients are high risk for life threatening events and their triage level should be high. Patients level of pain should be assessed and believed. Treatment should also commence not longer than 30 minutes after presentation in the ER. The sooner treatment is enacted, the less time patient will stay in the hospital. Time should not be used in the field obtaining an IV unless there is a long transport. Nasal oxygen can be administered if the patient is dyspneic. Emergency room staff performing triage and evaluation should be aware of high priority problems:
Fever - Fever is high priority problem that could potentially be fatal sepsis. Patients with Hb SS are functionally asplenic and at very high risk for bacterial infections. This should not be masked with antipyretics until the source is known. Patients should be brought into the clinic immediately for a full evaluation. Prophylactic penicillin should be instituted at birth and should continue until the child is six years old or longer in individual cases.
Chest pain or Dyspnea - Could be potentially fatal Acute Chest Syndrome and needs a full evaluation with a chest X-ray. Administer oxygen if the patient is dyspneic or hypoxic. Chest Syndrome may need treatment with blood transfusions.
Acute Headache - Could be a hemorrhagic or thrombotic stroke, or meningitis. A rapid evaluation with consideration of a CT scan and/or lumbar puncture.
Acute Abdominal Pain - Could be splenic/hepatic sequestration, cholecystitis, bowel infarction or any any other cause of acute abdominal pain. Narcotic analgesics may mask the signs and pain of an acute abdomen
Transient Neurologic Symptoms, even in children should be considered a stroke and early transfusion can prevent further episodes.A painless limp may indicate hemiparesis
The "worst "pain crisis ever with other evidence of multiorgan failure should be treated immediately with blood transfusions or exchange transfusion.
Weakness, dizziness, and increasing fatigue can indicate an increasing anemia from aplastic crisis, sequestration of red cells in the spleen or liver, and from increase hemolysis. Chronic hemolysis will cause an elevated indirect bilirubin, LDH and reticulocyte count. A "normal " or low reticulocyte count and a falling hematocrit is an indicator of aplastic crisis. A reticulocyte count is the best indicator of the bone marrow effectiveness in making new red cells.
Atypical Pain - Always ask the patient if the pain they are experiencing is normal pain crisis. If it is atypical, suspect another cause of the pain or a complication causing the pain episode. Focal bone pain and tenderness may be a bone infarction or osteomyelitis.
Priapism- Priapism is apainful sustained penile erection and if it is not treated promptly can result in permanent impotence.
IV Fluids and Access- Hypotonic IV fluids like D5W should be used to treat pain events to drive free water into red cells. Never use the foot or lower leg as an IV site because of the potential for leg ulcers. Many patients have ports for venous access. Use the proper Huber needle and strict aseptic technique to access a port.
Addiction - Narcotic addiction is a rare occurrence, usually effecting 2% - 5% of the sickle cell population. Negative attitudes should not be generalized to all sickle cell patients. (It takes several days of continuous narcotics to cause physical dependence and tolerance. This should not be a concern in the Emergency Room).
Routine Labs - For emergency evaluation should include a CBC with WBC differential, a reticulocyte count, LDH, Direct/Indirect Bilirubin, and Urinalysis. Other lab values may be required depending on the presenting problem.
"It is difficult to convey how chronic pain basically invades your life. You basically gets off one sickle cell painful episode wondering when the next one will hit. As a woman who has given birth; I would take child birth labour over the sickle cell painful episodes".
This statement was made by a patient interviewed during an informal survey on the production of the awareness video "Living with Sickle Cell Disease" Chronic pain is an inevitable part of living with sickle cell disease and yet it remains to be appropriately managed by the health care professionals.
Sickle cell disease is a life-long condition whose symptoms and complications have considerable variability among the affected individuals – as well as during different times in the life of a particular affected individual. Currently, successful hematopoietic stem cell transplantation is the only cure but is only available for a small minority of individuals due to the lack of suitable donors and other reasons.
For infants with sickle cell disease, serious health complications can arise within a few months after birth such as life threatening infections, vasoocclusive crises, etc., which makes early involvement by expert medical teams essential. Their parents need to be educated to anticipate complications so that prompt and appropriate actions can be taken to ensure the safety and optimal development of these children. Early adolescence is the optimal time for the individuals to learn about the detail nature of their own condition, to be aware of how to stay healthy and to know how to advocate for themselves. The nurturing of this knowledge is critical in addition to their regular scheduled clinic appointments. Adolescence and young adult period can be challenging times as the person with sickle cell disease achieve greater independence in the midst of peer pressure in schools and in their vocations. The building of a healthy self-image with motivation to maintain good health is paramount. Aging inevitably brings with it concerns with sickle cell related premature organ damage on top of the normal wear and tear processes. Recent research in this area together with the help of expert teams is needed to deal with the various concerns. Throughout these critical stages in life, persons with sickle cell disease have distinct physical and psychosocial needs that are different from the unaffected population at large. They will require comprehensive health care through expert medical centers that can address their diverse health needs.
So what is comprehensive care?
Comprehensive care deals not only with management of sickle cell disease, but also places a great deal of importance in the prevention of its complications and the creation of a healthy life outcome. It addresses both the physical and emotional health at all stages of life, and provides care to the persons with sickle cell disease in the context of his (her) family, life events and environment.
The optimal core comprehensive care team should include hematologists and specialty nurses with expertise and interest in sickle cell disease. Medical social workers and psychologists are needed to assist with psychosocial challenges. The support of medical experts such as Emergency room physicians, Pain management physicians, Intensivists, Pediatricians, Internists, Laboratory and Transfusion medicine physicians, Medical geneticists, Obstetricians are indispensible at different times. It will be importance for the core medical team to keep these supporting physicians updated with the newest knowledge in the field, and to ensure close communication when a patient is seen.
The expert medical center should have 24/7 coverage to attend to patients with acute medical problems, or be able to offer real-time medical advice at a distance should patients show up their local hospitals. In addition, the provision of services for patients and families, including education, counseling, support groups, advocacy, and other special programs will help to improve the quality of life of patients and their families.
Until a cure is achieved for everyone affected with sickle cell disease, the offer of optimal comprehensive care to these individuals will enable them to have the best clinical outcome, and a good quality of life.
Acknowledgement: Materials provided by www.sicklecelldisease.ca
Health Canada's Permanent Donor Deferral Policy: The Sickle Cell Awareness Group of Ontario wrote Health Canada on its stand on the Permanent deferral of donors who have lived in or travelled to certain African
countries (Cameroon, Central African Republic, Chad, Congo, Equitorial Guinea, Gabon, Niger or Nigeria)
since 1977 and the sexual partners of these potential blood donors. Letter is attached:
Furthermore, on joining the National Association, SCDAC/AAFC; Ms. Tunji-Ajayi who spearheaded this
advocacy work at SCAGO, continue to work with Health Canada, Canadian Blood Services and
Hema-Quebec to move this project forward.We are pleased to submit that Health Canada has relaxed the
deferral policy from permanent deferral to 12 months for those who have lived in or travelled to the
African countries in question. SCDAC/AAFC and its member organizations continue to work on the clause
around spouses/sexual partners of these donors
Medical Day Unit ward clerk
Phone: (613) 737-2470
Fax: 613 738-4828
Phone: (613) 737-2393 #2210
Dr. Robert Klaassen and Dr. Ewurabena Simpson
Phone: (613) 737-2393 #2210
Fax: (613) 738-4828
Phone: (613) 737-2470
Fax: (613) 738-4828
Phone: (613) 737-2470
Fax: (613) 738-4828
2. Toronto General Hospital
Red Blood Cell Disorders Program
200 Elizabeth Street
Toronto ON M5G 2C4
416-340-4800 ext 8618
Name of clinic director
Dr. Richard Ward
416-340-4800 ext 3866
Clinic patients call: 905-521-2100, ext. 73887 to book follow-up appointments
Dr. Uma Athale (Pediatric)
Dr. Madeleine Verhovsek (Adult)
905-521-2100, ext. 76851
905-521-2100 Ext 76161
Fax: 905 521-2654
Sick Kids Hospital
555 University Avenue,
Manager, Clinical Programs, 8D Day
Outside HSC dial: (416) 813-7208
Name of clinic director/s
a. Dr. Melanie Kirby
Outside HSC dial: (416) 813-7606
b. Dr.Isaac Odame
Outside HSC dial: (416)
a. Melina Cheong
Outside HSC dial: (416)
C. Karen Charpentier
dial: (416) 813-6443 ext 2
dial: (416) 813-7654 ext. 228839
Dr. Richard Ward is an adult hematologist at Toronto General Hospital. He has given many hours to patient education. He provided an in-depth teaching on Avascular Necrosis to both Medical and the patient community. You may download and share. Kindly recognize SCAGO when you use materials from its website. Thank you
What is Hydroxyurea?
Hydroxyurea is a drug (capsule) that was originally used to treat some forms of blood cancer (Leukemia) and blood disorders that can later turn into Leukemia. It has been used for over 15 years to treat sickle cell disease.
Hydroxyurea works in a few different ways, but the main way is to increase your body’s production of Fetal (baby) Hemoglobin.
We know that this then protects you against sickle cell disease. It is a safe drug and there is no evidence to suggest increases the risk of cancer in patients with sickle cell disease. Like all drugs, it does have some side effects, and you need regular blood test monitoring. Also, unlike pain killers which you take when required, Hydroxyurea must be taken every day to be effective.
Hydroxyurea is the only drug therapy available for sickle cell disease and has been shown to prolong survival, reduce pain episodes and some of the complications. Unless you have been told by a specialist that you have very mild Sickle Cell Disease, you should consider going on the drug.
Why am I being offered this treatment?
You are most likely to be offered Hydroxyurea because you have lots of painful crisis or Acute Chest Syndrome. It may also be offered if there is concern about damage to any of your body organs from the sickle cell disease, or as an alternative to blood transfusion treatment.
Other available treatments for sickle cell disease
Many individuals with sickle cell disease may also be offered continuous blood transfusion or blood exchange. These therapies will also help to increase the level of the non-sickling blood in the system.
What is Iron Overload?
Toxic iron overload is an inevitable consequence of regular blood transfusion. Excess iron cannot be excreted by individuals living with sickle cell disease hence it is deposited in parenchymal tissues and toxicity results in organ damage.
Are you At Risk for Iron Overload?
Anyone who has received more than 10 transfusions is at risk for iron overload.
Every unit of blood contains about 200-250mg of iron. A single transfusion of two units would provide over 100 times what you would normally get from your diet in a day and is equivalent to 1-2 years' worth of iron intake!
If you receive frequent blood transfusion, you should be discussing iron overload with your doctor
Dr. Kevin Kuo is an adult hematologist at Toronto General Hospital. He has given many hours to patient education. He provided an in-depth teaching on Strokes in Sickle Cell Disease to both Medical and the patient community. You may download and share. Thank you
Transition from Pediatric to Adult Care
Transitioning from pediatric to adult care is a process that demands a lot of planning and open communication. While we appreciate the work of the hospital teams and the families in explaining the process and guiding the young people in this journey, SCAGO is pleased to provide an educational platform that brings together the SickKids (pediatric), Toronto General Hospital (adult) and other medical & allied health professionals along with the young adults transitioning, their families and the patient associations.
Research and Clinical Trials Meeting – September 24th 2016
We were very fortunate to have had excellent presenters at our Research and Clinical Trials ‘Learning for Life” session at the Hospital for Sick Kids in September. By giving of their time, they helped to inform, inspire and give hope, not only our membership, but others whose lives have been touch by SCD in some way. We are grateful too, that they agreed to share their presentations with us on our website, so that this information could reach an even wider audience.
Rebecca Leroux is a Clinical Research Nurse in the Red Blood Cell Disorders Program at Toronto General Hospital. Rebecca began her nursing career working in the Emergency Department, and also has experience coordinating research in pediatric hemaglobinapathies. Rebecca is particularly interested in using new and innovative treatments to improve the quality of life for patients with genetic conditions.
Manuela Merelles-Pulcini obtained her BScN from the University of Toronto followed by her Masters in 2012. Manuela has been in nursing for over 19 years, with those 19 years having been dedicated to various nursing programs at the Hospital for Sick Children, including Cardiology, Intensive Care, and Thrombosis. In 2003, Manuela transitioned to the Hemoglobinopathy program as the Clinical Research Nurse Coordinator; in her current role she assumes responsibility for the day-to-day management and administration of research projects within the program
Dr. Kevin Kuo is a clinician-investigator at the Red Blood Cell Disorders Program at the University Health Network and cross-appointed at the Hospital for Sick Children. His main research focus in sickle cell disease include: Understanding white matter changes and its effects on cognition, optimizing exchange transfusion, pursuing non-chelating approaches to reduce cardiac iron overload, transition of adolescents and young adults, and novel pharmacologic and non-pharmacologic therapies in sickle cell disease.
On November 26th, 2016 SCAGO hosted a very successful Post-Secondary Learning for Life Seminar. We had speakers from the Toronto School Board, The YMCA, OYAP and Humber College as well as faculty from Sick Kids.
Based on presentations from that session, we have compiled some resources which you may find helpful as you navigate the exciting but sometimes stressful transition to Post-Secondary life. With enough research we are sure you can find the right fit for you:
Successfully getting into University or College
Successfully getting into University or College’
YMCA Carrier Planning and Development Services
The Ontario Youth Apprenticeship Program OYAP
Pediatric To Adult Transition Care Coming Soon