Sickle cell anemia

Sickle cell anemia, also called drepanocytosis, is a blood disorder or hemoglobin disorder that changes the shape of red blood cells. The abnormally shaped red blood cells interfere with the delivery of oxygen to the body’s organs. The misshapen cells can also stick together in small blood vessels and obstruct blood flow.

Sickle cell anemia is the most common form of severe hemoglobin disorder. An inherited disease, that is, passed on by the parents and present at birth, sickle cell anemia is also a chronic disease and is therefore lifelong, even when treated.

Anyone can have sickle cell anemia. However, the disease is more common in people of African, Mediterranean, Caribbean and Middle Eastern descent and from some parts of India and South America.

There are other severe forms of hemoglobin disorders. Like sickle cell anemia, these disorders can cause abnormally shaped red blood cells and lead to “pain crises”. Other signs and symptoms can be associated with these disorders. To find out more, go to the Symptoms page.

Other hemoglobin abnormalities can also be associated with diseases that require medical follow-up and treatment, such as β-thalassemia major and hemoglobin H disease.

The symptoms of sickle cell anemia vary from person to person, even within the same family.

Common symptoms include:

• fever;
• prolonged pain;
• abdominal swelling (swollen spleen);
• respiratory difficulties;
• painful, long-lasting erections;
• headache;
• neck stiffness (torticollis);
• weakness or numbness in the arms or legs;
• vision problems;
• severe stomach ache.

A person with sickle cell anemia will have chronic anemia and frequent pain crises in various parts of the body. Crises often occur when blood flow is obstructed by clusters of misshapen cells. The pain, which is very debilitating, can vary in severity (mild to acute) and last a long time or go away quickly.

If you notice these signs and symptoms in your child, see a doctor. Sickle cell anemia is often diagnosed in early childhood.

If your child has been diagnosed with sickle cell anemia, the guide Sickle Cell Disease: A Family Handbook  is an essential document that will help you recognize your child's symptoms and learn the best ways to relieve them. If your child develops these symptoms, they must see a doctor promptly. As soon as possible, call your specialized centre and go to the hematology clinic or emergency room.

Preventing pain crises

Pain crises are frequent and very debilitating for people who have sickle cell anemia. If you have sickle cell anemia, you can prevent pain crises. Here are some things you can do:

• watch for the development of signs and symptoms of the disease;
• follow a healthy, balanced diet that is high in protein and folic acid, for example, by eating more legumes, dark green vegetables, whole oranges or orange juice;
• practice good body and dental hygiene;
• drink plenty of water;
• avoid needless stress;
• avoid situations that lower your oxygen levels:
  • travelling in a non-pressurized aircraft (1500-2000 m),
  • poorly ventilated places,
  • walking outdoors in extreme cold temperatures without being dressed properly,
  • swimming in cold water;
• exercise regularly, making sure you drink enough fluids, to increase your cardiopulmonary capacity;
• get vaccinated to prevent infections;
• have regular medical follow-up.

There are several treatments that can relieve the symptoms of sickle cell anemia and improve the person’s quality of life. Some treatments can prevent numerous complications, such as taking antibiotics as prevention to reduce the risk of bacterial infections.

For more information about the treatment of sickle cell anemia, see the guide Sickle Cell Disease: A Family Handbook  or talk to your doctor.

Medical follow-up at a specialized centre

People who have sickle cell anemia need regular medical follow-up to obtain appropriate treatment for their condition. Follow-up is provided in specialized centres by a multidisciplinary team associated with a hematology clinic.

In Québec, five specialized centres provide treatment and follow-up for children who have sickle cell anemia:

• Centre hospitalier universitaire Sainte-Justine;
• Centre universitaire de santé McGill – Hôpital de Montréal pour enfants;
• Centre hospitalier universitaire de Québec – Centre hospitalier de l'Université Laval;
• Centre hospitalier universitaire de Sherbrooke – Hôpital Fleurimont;
• Centre intégré universitaire de santé et de services sociaux de l’Est-de-l'Île-de-Montréal – Hôpital Maisonneuve-Rosemont.

Other specialized centres provide treatment and follow-up for adults who have sickle cell anemia:

• Centre hospitalier universitaire de Montréal – Hôpital Notre-Dame;
• Centre universitaire de santé McGill – Hôpital Royal-Victoria.

Support group

The Sickle Cell Anemia Association of Quebec  is a voluntary organization that provides support to children and to anyone who has sickle cell anemia in Québec. It helps improve the quality of life of families living with the disease by providing various services, such as family respite and support programs.

A person can be a carrier of the gene for sickle cell anemia without being sick. Carriers do not have a higher risk of developing the disease than other people. However, the gene for the disease can be passed on. For information about the chances of passing on the gene for the disease or of having a child with the disease, go to the page Recessive hereditary disease transmission.

Blood tests can be done at any age to find out if you carry the gene for sickle cell anemia. Finding out your carrier status might allow you to plan future pregnancies, especially if you know that your partner also carries the gene.

Adults often want to know if they carry the gene for sickle cell anemia when they discover that their child is a carrier.

Finding out your child’s carrier status

A baby’s carrier status can be determined during newborn blood screening. The Québec Neonatal Blood and Urine Screening Program, which is offered to babies born throughout Québec, can detect various diseases, including sickle cell anemia, and determine whether or not the baby is a carrier of the gene.

The carrier status result is only sent if it is requested. It may be requested any time, since the information is stored long term in a confidential manner.

Some parents believe the information is useful, but prefer to wait to request the result and avoid needless stress. Some people say that they tended to see their child as more vulnerable when they knew the child was a carrier, even if the child’s risk of being sick was not any higher than for other people. Other parents prefer to wait until their child is old enough to decide if they want to ask for their result. The child may do so when they turn 14.

For a child, knowing their carrier status will only be useful when they decide to have children. When they are old enough to start their own family, the information will allow them to make fully informed choices.

Advantages and disadvantages of finding out your child’s carrier status

The advantages of knowing your child’s carrier status are summarized below:

• you will be able to tell your child when the time comes;
• you will have an idea of your own carrier status;
• you will be able to submit a request to find out the carrier status of other family members.

The disadvantages of knowing your child’s carrier status are summarized below:

• you may worry needlessly about their health;
• you may be mistaken about your own carrier status (you might be a carrier of the gene even if your child is not);
• it might indirectly reveal that the father is not the biological father (both parents of a child who is a carrier will necessarily be carriers).