Sickle Cell Anemia

Genetic Mutations

What is it and what is it's genetic mutation?

Sickle cell anemia is the most common form of sickle cell disease (SCD). SCD is a serious disorder in which the body makes sickle-shaped red blood cells. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily throughout your blood vessels. Red blood cells contain hemoglobin which carry oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage. It can also raise the risk for infection.

What actually happens?

Sickle cell anemia is one type of anemia. Anemia is a condition in which your blood has a lower than normal number of red blood cells. This condition can also occur if your red blood cells don't contain enough hemoglobin. Normal red blood cells live about 120 days in the bloodstream and then die. They carry oxygen and remove carbon dioxide from your body.

In sickle cell anemia the abnormal sickle cells usually die after only 10 to 20 days. The bone marrow, where the new red blood cells are usually made to replace the old ones, can't make new red blood cells fast enough to replace the dying ones.

Sickle cell anemia is an inherited, lifelong disease and people are born with it. They inherit two genes for sickle hemoglobin, one from each parent. People who inherit one mutated gene and a normal one have a condition called sickle cell trait.

People with this trait don't have the disease but they do pass the sickle hemoglobin gene to their children.