Sickle Cell Anemia

Description

Sickle cell anemia is the most common form of severe haemoglobin disease.

Sickle cell anemia, also known as drepanocytosis, is a blood disease that affects the hemoglobin in the body’s red cells. It is often diagnosed during early childhood. While infection and pain are the most common health problems encountered by people who have sickle cell anemia, other very severe complications such as strokes may arise. Available treatment and medications can alleviate some of the symptoms and possibly avoid some complications.

Sickle cell anemia is a hereditary disease, which means that people who have it are born with it. It is also a chronic disease, which means that people who have it will have it for their entire lifetime, even if it is treated.

Other types of severe haemoglobin diseases exist, but they are rarer and their symptoms are variable. If any of these diseases is diagnosed through screening, appropriate treatment and medical monitoring will follow.

Understanding sickle cell anemia

Sickle cell anemia causes red blood cells to become “sickle-shaped” and prevents them from efficiently carrying oxygen to the body’s organs. The distorted red blood cells may accumulate in the narrow capillaries of the body and block normal blood circulation. Such blockage leads to a variety of symptoms and is the cause of most “sickle cell pain crises.”

Frequency in certain groups

Although sickle cell anemia can affect anyone, the disease is more prevalent among children whose parents are from Africa, the Mediterranean basin, the Caribbean, the Middle East and parts of India and South America.

Symptoms

The main signs of sickle cell anemia are the following:

  • Chronic anemia
  • Pain that varies from minor to acute, felt in various parts of the body and that may be long-lasting or could quickly dissipate.

The symptoms of sickle cell anemia can vary from one person to another, even if they are in the same family. Among the symptoms to watch for are the following:

  • Fever
  • Prolonged pain
  • Distended or enlarged abdomen (enlarged spleen)
  • Difficulty breathing
  • Painful and persistent penile erection
  • Headache
  • Stiff neck
  • Weakness or numbness of arms or legs
  • Change in vision
  • Severe abdominal pain

If your child has been diagnosed with sickle cell anemia, the document Sickle Cell Disease: A Family Handbook This link opens a new window.can help you recognize your child’s symptoms and learn the best ways to alleviate them. If these symptoms develop, your child needs to see a doctor without delay. Call your specialized treatment centre and go to the hematology clinic or emergency department.

Preventing sickle cell pain crises

Pain crises are frequent and highly debilitating for persons suffering from sickle cell anemia. For these persons, the following advices may help prevent pain crises:

  • Be attentive to the development of the signs and symptoms of the disease
  • Eat a balanced diet rich in proteins and folic acid, for example with more legumes, dark green vegetables, whole oranges or orange juice
  • Ensure good body and mouth hygiene
  • Drink lots of water
  • Avoid unnecessary stress
  • Avoid situations that lower your oxygen, such as  
    • Aircraft cabins that are not pressurized to 1500-2000 metres
    • Poorly ventilated areas
    • Walking outside in severe cold weather without appropriate winter clothing
    • Cold-water swims
  • Exercise regularly while hydrating sufficiently, so as to increase cardio-respiratory capacity
  • Prevent infection by getting vaccinated
  • See a medical practitioner regularly

Treatment

Various treatments are known to alleviate the symptoms of sickle cell anemia and prevent a lot of complications. For example, the preventive use of antibiotics can reduce the risk of bacterial infection. Seeing a doctor on a regular basis means that the treatment most appropriate to the state of health of the patient can be dispensed and improve the quality of their life.

Treatment in specialized centres

People suffering from sickle cell anemia need regular medical monitoring that is adapted to their state of health. This particular type of monitoring is handled by multidisciplinary teams associated with hematology clinics in specialized medical centres.

There are four specialized medical centres in Québec that treat children affected by sickle cell anemia:

  • Centre hospitalier universitaire Sainte-Justine, also affiliated with the Centre hospitalier Maisonneuve-Rosemont;
  • 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.

Other specialized centres, such as the following, treat adults suffering from sickle cell anemia:

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

For more information on how sickle cell anemia is treated, read Sickle Cell Disease: A Family Handbook This link opens a new window. or speak to your doctor.

Transmission

Sickle cell anemia is a recessive hereditary disease, which means that people who have this disease are born with it. It is not contagious, unlike, for example, the common cold.

A recessive hereditary disease can only be transmitted to a child if both parents are carriers of the sickle cell anemia gene and both pass it on. To understand the probability of transmission of the sickle cell anemia gene and of passing the disease to your child, visit: Transmission d’une maladie héréditaire récessive page (in French only).

Sickle Cell Anemia Gene Carrier Status

It is possible to determine whether babies born in all regions of Québec carry the sickle cell anemia gene. Carrier status is revealed by the same test that detects sickle cell anemia itself.

Children who carry the gene of this disease are not sick. If your child is a carrier of this gene, you will not be automatically contacted, as the result of the test is only shared on request.

Knowing the Carrier Status of Your Child

Your child’s carrier status will only become useful when he or she decides to have children. Information to help you understand the probabilities of you transmitting the gene of this disease or having an afflicted child is available on the Transmission d’une maladie héréditaire récessive page (in French only).

Reasons for learning your child's carrier status right now

Your child’s carrier status can provide an indication of your own carrier status and help you plan future pregnancies

Haemoglobin diseases are recessive hereditary disorders. If your child is a carrier, at least one of the child’s biological parents is also a carrier. If both parents carry the gene, for each pregnancy, the probability of having an afflicted child is 1 in 4, while the probability of a child being a carrier of the gene for the disease is 1 in 2.

You will have all information you need to inform your child at the appropriate time

Some parents want this information in order to warn their child of his or her carrier status before they are old enough to make a decision on starting a family of their own. This information will make it possible to take decisions with all the facts in hand.

You will be able to inform other members of your family

If your child is a carrier of a blood disease, other family members (brothers, sisters, aunts, uncles, cousins) could also carry the gene.

Reasons for not learning your child's carrier status right now

There is no emergency

Carriers of the gene for this disease are not sick and are no more likely than anyone else to become afflicted. Carrier status is information that will be useful to your child later in life, when a decision to start a family is made. Some parents consider that this information is relevant but prefer to wait until their child is old enough to take a decision on its own.

The information could worry you needlessly about the health of your child

Some parents say that they tended to see their child as being more vulnerable once they know the screening results, even if this did not mean that the child was more at risk for health problems than other children. To avoid unnecessary stress, some parents prefer not to ask for the information right away.

The test only screens for sickle cell anemia gene carriers

Newborn blood and urinary screening only tests for sickle cell anemia gene carrier status. The screening does not test for other blood diseases, such as thalassemia.

Your child’s carrier status results do not necessarily reflect your own

Parents can be carriers of a haemoglobin disease even if their child is not.

There are other ways of finding out your child’s carrier status and/or your own

Testing to reveal if you are a haemoglobin disease carrier can take place at any age. If you come from a region of the world where haemoglobin diseases are common, speak with your doctor, who will be able to prescribe a test that will detect your own carrier status. Read the Frequency in certain groups section to see which groups of people are most likely to carry this gene.  

Carrier status can indirectly reveal non-paternity

When a child is identified as a carrier, its parents are advised to be tested to learn their own carrier status. That information can enable them to plan future pregnancies. On the other hand, the result could indirectly show that the father is not the child’s biological father.

Availability of screening results

You can request the results of your child’s sickle cell anemia screening test at any time. Once your child turns 14, he or she will also be able to obtain the screening results.

If no sickle cell anemia screening was performed on your child and you are concerned about you or your child being a carrier of the gene, you should speak with a doctor. To learn which groups of people are more likely to carry this gene, read the Frequency in certain groups section on the sickle cell anemia page.

Obtaining the results of the screening

You may request the results of the screening test for your child’s carrier status from your doctor or request it directly, using the following steps:

CHU de Québec staff will forward the results to you by mail within 10 business days of receiving your application. In addition to the results letter, you will receive general information about what being a carrier of the sickle cell anemia gene or not means.

The result of your child’s screening test for carrier status will remain confidential, long-term.

If you have other questions about carrier status, please ask your child’s doctor.

Support Group

The Association de l’anémie falciforme du Québec (Québec association for sickle cell disease) This link opens a new windowis a support group for children and families dealing with sickle cell anemia that provides various service such as family respite and mutual aid programs.

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Last update: March 29, 2018 12:21 PM

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