By The Definition:
Sickle cell is a progressive and unpredictable genetic disorder that affects red blood cells. Learn more about what causes this genetic condition.
Sickle Cell Disease (SCD) is a group of inherited red blood cell disorders. Healthy red blood cells are round and they move through small blood vessels carrying oxygen to all parts of the body. In SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle.” Sickle cells die early, which causes a constant shortage of red blood cells. When they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such infection, acute chest syndrome and stroke.
Symptoms and complications of SCD are different for each person and can range from mild to severe.
There is no universal cure for Sickle Cell Disease.
The only cure for SCD is a bone marrow or stem cell transplant.
Bone marrow or stem cell transplants are very risky, and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match.
People with SCD can live full lives and enjoy most of the activities that other people do. Treatment options are different for each person depending on the symptoms and can include receiving blood transfusions, maintaining a high fluid intake, receiving intravenous therapy and medications to help with pain.
What Causes Sickle Cell?
Sickle cell is a progressive and unpredictable genetic disease caused by a change (mutation) in both copies of the HBB gene that you inherit from your parents. This change affects the hemoglobin protein, which causes people with sickle cell to produce an abnormal form of hemoglobin called hemoglobin Sickle (HbS). There are hundreds of variations in the HBB gene that can affect the hemoglobin protein. Although HbS is the most common abnormal form of hemoglobin, there are other variations. Because of this, there are different types of sickle cell.
In sickle cell, HbS proteins clump together, causing red blood cells to become sickle shaped, sticky, rigid, and fragile. You can think of red blood cells as a water balloon: healthy red blood cells are flexible and can flatten and squish through even the smallest of blood vessels. Sickled red blood cells, however, have a harder, less flexible consistency—like a water balloon full of ice chips instead of water—causing them to break apart, damage vessels, slow and/or stick and block blood flow throughout the vessels of the body. This leads to the symptoms and complications associated with sickle cell.
Who Gets Sickle Cell?
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