What is Sickle Cell Disease?

Published on 
October 16, 2017
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Besides treating children with cancer, our Children’s Center for Cancer and Blood Diseases at Children’s Hospital Los Angeles treats kids who have a genetic hematological disorder. This blog is about one type of hematological disorder called sickle cell disease (SCD).

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What is sickle cell disease?

Sickle cell disease is a rare inherited blood disorder affecting the hemoglobin in the blood. SCD affects approximately 100,000 Americans whose ancestors are from areas around the equator (sub-Saharan Africa, Central America, South America, the Caribbean, the Middle East, India and Mediterranean countries). It is an inherited defect (genetic mutation) in the blood. Inherited means the disease is passed by genes from parent to child; the child must inherit one gene from each parent to develop the disease. The body of a person with SCD has a problem making the red blood cell hemoglobin.

Hemoglobin is a doughnut-shaped cell (without the hole) that is responsible for carrying oxygen and nutrients to cells and tissues within the body. The shape of a normal hemoglobin cell allows it to be very flexible so it can move through blood vessels, big and small, delivering these to tissues. But when a person has sickle cell, some of the hemoglobin cells develop rods within the cells, causing them to become stiff and shaped like a sickle. Because sickle cells are irregularly shaped and don’t function like regular hemoglobin, many unhealthy things can happen to the body as a result.

Symptoms

The irregular and inflexible shape of sickle cells causes them to become stuck in blood vessels, creating a blockage. This prevents the regular hemoglobin from reaching body tissues, depriving the tissues of oxygen and nutrients and causing significant pain. A pain crisis requires hospitalization so the person can receive very strong pain medicine.

The sickle cell blockages can also cause direct, permanent damage to internal organs, bones and joints. People who have sickle cell disease may have other problems with their body, such as being prone to developing infections and strokes, and a life-threatening problem with their lungs called acute chest syndrome.

Another problem associated with sickle cell disease is anemia. Anemia is a condition in which not enough hemoglobin is produced by the body, causing a person to feel weak and tired. Since sickle cells aren’t very flexible, they tend to burst easily—shortening their life span. The body cannot keep up with the production need of hemoglobin because of the destroyed cells. The result is a person with sickle cell disease becomes anemic. You may also hear this disease also called sickle cell anemia.

Treatments

Sickle cell disease is a lifelong illness that has no cure except for allogenic bone marrow transplant. There are many subtypes of SCD for people who have the condition, and as a result, the severity of the disease differs from person to person. However, there are many effective medications and treatments that can reduce symptoms and prevent complications, increasing the average life span of a person afflicted with sickle cell disease. With early diagnosis, regular preventative care and a healthy lifestyle, many people living with SCD can improve their quality of life. It is hoped that one day gene therapy will be able to cure this disease.