What is Sickle Cell Disease (SCD)?
Sickle Cell Disease (also called Sickle Cell Anemia) is a group of red blood cell disorders you have inherited and are born with. Sickle Cell Disease is caused by an abnormal form of Hemoglobin. This is the part of your red blood cell that carries oxygen around the body and keeps your vital organs working. In Sickle Cell Disease, the abnormal Hemoglobin (HbS) is not able to work properly. The red blood cells become stiff and block up the blood vessels in your body, causing pain and damage, and they also get destroyed quickly, leading to anemia.
What makes the red cell sickle?
There is a substance in the red cell called hemoglobin that carries oxygen inside the cell. One little change in this substance causes the hemoglobin to form long rods in the red cell when it gives away oxygen. These rigid rods change the red cell into a sickle shape instead of the round shape:
What does Sickle Cell Anemia mean to me?
It is something you will have your whole life, and need to learn how to live with it, so that you can continue living as normally as possible, with schooling, work, and family life. As it is inherited, you also need to know your partner’s Sickle Cell status as you could pass it onto your future children too.
How does someone get Sickle Cell Disease?
Anyone can have Sickle Cell Disease or trait including Caucasians but it is seen more in people from Africa, the Mediterranean, Caribbean, Middle East, South East Asia, Western Pacific Region, South America, and Central America.
Sickle Cell Disease runs in families and is caused by a problem with the hemoglobin gene. Genes are the instructions that tell our bodies how to grow and develop. Most people have two normal copies of the hemoglobin gene – one from their mother and one from their father. A person with Sickle Cell Disease has two sickle hemoglobin genes, one from each parent. For a couple to have a child with Sickle Cell Disease, both parents must be carriers. A carrier of Sickle Cell Disease has one normal hemoglobin gene and one sickle hemoglobin gene. A carrier does not have, and will not develop, Sickle Cell Disease.
All races should be screened for this hemoglobin at birth.
What are the complications to look for?
Sickle Cell Disease causes problems in 2 ways, by the breakdown of the red blood cell (hemolysis) and by blocking the flow of blood in the blood vessels (vaso-occlusion). This most commonly causes pain, especially in the bones. Other painful complications include priapism (see below), damage to shoulder and hip joints (avascular necrosis), chest pain (acute chest syndrome). There are also a lot of problems that may not be painful. These include damage to the lungs, heart (heart failure, pulmonary hypertension), kidney, liver and eyes, and also stroke, leg ulcers, infections. Because it can damage all of these body “systems”, Sickle Cell disease is an example of a “multisystem disorder”.
How can I prevent developing these complications?
Many complications can be prevented or reduced by either regular blood transfusions or Hydroxyurea tablets. However, both of these have side effects and there are simple lifestyle changes that can make a big difference. These include regular exercise, a good diet, not smoking and not drinking too much. Reducing the amount of stress in your life is also important, as is avoiding things that can provoke a painful crisis. Making sure you are up to date with vaccinations can help to prevent serious infections.
By seeing your doctor in clinic, when not in crisis, you have an opportunity to discuss these ways of coping with Sickle Cell Disease, and reducing complications
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.
If you receive frequent blood transfusion, you should be discussing iron overload with your doctor.
How many Canadians have SCD?
While there is no patient registry to provide accurate statistics on the number of persons with SCD in Canada, SCDAC/AAFC in 2013 started to compile the number of patients in various comprehensive care centres across the country and the number then was about 3,500 persons. In 2016/17, the number has increased to about 4,512. Given that some patients do not attend dedicated SCD clinics, we have also allocated an extra 500 persons ( covering those that receive care from family physicians, new in the country, etc) to bring persons with SCD to possibly 5000 Canadians. SCDAC/AAFC currently approves 5,000 patients as the estimated number of persons with SCD in Canada
Acknowledgement: Some of the information on this page was a courtesy of
1. Literature- So I have Sickle Cell Disease produced by Sickle Cell Awareness Group of Ontario
2. Grady Memorial Hospital’s Sickle Cell Information Centre and National Heart, Lung, and Blood Institute websites