Sickle Cell Disease Carrier Screening

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Sickle Cell Disease Carrier Screening

What Is Sickle Cell Disease?

Red Blood Cells in Sickle Cell Disease

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Sickle cell disease (SCD) is an inherited disorder that affects the red blood cells. A protein in the red blood cells called hemoglobin helps bring oxygen to all parts of the body. In a person with SCD, this protein is not normal — it makes the red blood cells stiff and shaped like a "C". Normally, red blood cells are round, flexible, and flow easily through blood vessels. However, stiff red blood cells can get stuck in tiny blood vessels. This cuts off the blood supply, causing pain and sometimes organ damage. Sickled red blood cells die and break down more quickly than normal red blood cells, which causes anemia ("low blood"). People with SCD also have a higher chance of infection and may have slower growth and development.

Currently, there is no cure for SCD. Treatments are available to help manage some of the health problems that can be caused by SCD.

About 1 in every 300 to 500 African Americans has SCD. It can also affect people of other ethnic backgrounds. People who are not affected with SCD but have one gene mutation for it are called carriers. Carriers are generally healthy and do not have sickle cell disease. They may have health problems under extreme conditions, such as high altitudes, serious dehydration, and strenuous exercise. Carriers are at risk to have a child with the disease.

Next: Genetics of Sickle Cell Disease