Sickle cell disease

What is sickle cell disease?

Sickle cell anemia is a lifelong, inherited blood disorder that affects the shape and function of red blood cells. Instead of being round and flexible, red blood cells become rigid and crescent- or “sickle”-shaped. These misshapen cells can block small blood vessels, reducing oxygen flow to tissues and causing pain, infections, and potential organ damage. 

Sickle cell anemia is present from birth and is part of a group of conditions known as sickle cell disease. Symptoms and severity can vary from person to person, patients may experience pain, fatigue, breathing problems, infections, stroke and organ damage. These patients will require lifelong medical care.

Types of Sickle Cell Disease

• Hemoglobin SS (HbSS) disease- when a person inherits 2 copies of the hemoglobin S gene, one from each parent. This is usually the most severe form of the disease and is also know as sickle cell anemia.
• Hemoglobin SC (HbSC) disease- when a person inherits the hemoglobin S from one parent and hemoglobin C from another parent. This form of sickle cell disease is usually milder.
• Hemoglobin S beta thalassemia: HbS Beta Thalassemia occurs when a person inherits the hemoglobin S gene from parent and a gene for beta thalassemia from another parent. The beta thalassemia gene can be “zero” or “plus”. HbS Beta 0- thalassemia is usually more severe

Treatments and care

While there is currently no universal cure for sickle cell anemia, a range of treatments can help manage symptoms, prevent complications, and improve quality of life. Care is typically provided by a multidisciplinary team and tailored to each patient’s needs.

Medications and preventive care

• Pain management medications to treat pain crises
• Antibiotics and vaccinations to prevent infections
• Medications (such as those that increase fetal hemoglobin) to reduce sickling of red blood cells 

Blood and transfusion therapies

• Blood transfusions to increase healthy red blood cells and improve oxygen delivery
• Exchange transfusions to replace sickled cells with normal cells in more severe situations 

Curative and advanced therapies

• Stem cell (bone marrow) transplantation, which may offer a cure for some patients
• Emerging treatments such as gene therapy, currently approved by Health Canada 

Ongoing care and lifestyle support

• Regular follow-up with specialized care teams
• Taking medications as prescribed
• Know pain triggers
• Encourage healthy habits

Early diagnosis—often through newborn screening—and consistent medical care are key to improving long-term outcomes. 

Resources and referral pathways in Nova Scotia

Patients and families in Nova Scotia can access a range of specialized services, supports, and referral pathways for sickle cell anemia care. Early connection to these resources can help ensure coordinated, comprehensive care.

Accessing specialized care

Children and youth with sickle cell anemia are typically referred to pediatric specialists through their primary care provider (family doctor or nurse practitioner). At IWK Health, care is coordinated through pediatric hematology services, working closely with families to manage symptoms and prevent complications.

For ongoing or complex care needs, patients may also be referred to adult services through Nova Scotia Health as they transition from pediatric to adult care.  At the end of grade 12 or age 18 patients will be referred to Adult Hematology through Nova Scotia Health or to a Hematologist in NB or PEI as they transition from pediatric to adult care.

• Referrals to hematology specialists are made by a healthcare provider and triaged based on urgency IWK Hematology consults can be faxed to 1855 568 1293
• In Nova Scotia, hematology services are coordinated through a centralized referral system under the Cancer Care Program 
• Care is delivered through multidisciplinary teams, including physicians, nurses, and allied health professionals across the province 

If you do not have a primary care provider, you can call 811 to speak with a registered nurse for guidance on next steps and accessing care.

Provincial and regional supports

Several organizations and programs provide education, advocacy, and community support for individuals and families living with sickle cell disease:

• Sickle Cell Disease Association of Atlantic Canada
  Offers education, advocacy, and support services for individuals and families across Atlantic Canada
• Sickle Cell Disease Association of Canada
  Provides national resources, awareness initiatives, and connections to community supports
• Canadian Blood Services
  Supports patients requiring transfusions and highlights the importance of diverse blood donors

Screening and early diagnosis

Nova Scotia, New Brunswick & PEI participate in the Maritime Newborn Screening Program, which includes testing for sickle cell disease shortly after birth. Early diagnosis allows for timely treatment and preventive care to reduce complications. 

Families with a known history of sickle cell disease or trait can also speak with their healthcare provider about genetic counselling and testing options.

Family and community support

Living with sickle cell anemia can affect many aspects of daily life. Support services are available to help families navigate care:

• Social work and mental health supportsthrough IWK Health and Nova Scotia Health
• School support planning and education for caregivers and teachers
• Transition programs to support youth moving from pediatric to adult care
• Peer and community networks to connect with other families

When to seek urgent care

Patients with sickle cell anemia should seek immediate medical attention if they experience:

Emergency departments across Nova Scotia are equipped to assess and manage sickle cell complications, with care teams working to provide timely treatment.

• Fever: your child has a temperature equal to or greater than:
• 38.3°C (101°F) by mouth or ear or 38.0°C (100.4°F) for 2 readings 1 hour apart
• 37.8°C (100.04°F) under the arm or 37.5°C (99.5°F) for 2 readings 1 hour apart

A fever must not be ignored in a child with sickle cell disease.

• Prolonged Pain: your child is feeling pain that is not relieved by rest, increased fluids, acetaminophen (ex. Tylenol™ or Ibuprofen (ex. Advil™) or morphine if it is prescribed by your physician.

Tips for knowing if your child is in pain:

• Crying inconsolably

• Clutching the painful area

• Refusing to use a leg or arm

• Refusing to walk

• Swelling in the painful area

• Distended or Enlarged Abdomen: your child’s belly becomes enlarged and feels hard to the touch. This might mean that the blood cells are getting trapped in the spleen, causing it to enlarge.
• Difficulty Breathing: your child experiences one or more of these symptoms:
• rapid breathing
• shortness of breath
• persistent cough
• chest pain
• Painful and persistent penile erection: your child (boy) develops a painful, penile erection that lasts more than 1 hour.

Or any of the following other symptoms:

• headache
• stiff neck
• weakness or numbness of arms or legs
• change in vision
• severe abdominal pain