In 2012, the Centers for Disease Control and Prevention (CDC) released new data that showed that sickle cell disease (SCD) disproportionately affects blacks. In the United States, SCD occurs in about 1 out of every 365 black births. This means that black babies are about 100 times more likely to be born with SCD than white babies. The data also showed that SCD is the most common genetic blood disorder in the country and that about 1,000 babies are born with it each year.
There is no cure for SCD, but there are treatments that can help people manage the symptoms and complications. One way to prevent SCD is to get pregnant through in vitro fertilization (IVF) with a preimplantation genetic diagnosis (PGD). PGD is a test that can be done during IVF to identify embryos that do not have the sickle cell gene. This allows couples who are at risk for having a child with SCD to have a baby that is not affected by the disease.
While there is no guarantee that IVF with PGD will prevent SCD, it is a promising option for couples who are at risk for the disease. It is important to discuss your options with a genetic counselor or other healthcare provider before making a decision about whether or not to pursue IVF with PGD.
What is sickle cell disease?
Sickle cell disease is a chronic blood disorder that is inherited, affecting mostly African-Americans. The disorder results when the hemoglobin gene mutates, causing the red blood cells to assume an abnormal, crescent shape when oxygen is low. These malformed cells get stuck in small blood vessels, blocking the flow of blood and oxygen to tissues and organs. This can cause pain, organ damage, and anemia. There is no cure for sickle cell disease, but treatments can help manage the symptoms and prevent complications.
Frequently Asked Questions
What happens when you have sickle cell disease?
During a pain crisis, sickle cell disease can damage the vessels in your eyes. This can lead to vision problems.
What are the symptoms of sickle cell anemia in adults?
Chronic pain, suffocation from recurrent infections, and deformities of the hands and feet are among the most common symptoms of sickle cell anemia in adults. Other symptoms may also include bruising easily, chronic inflammation, and easy bleeding.
What are the symptoms of sickle cell disease in babies?
In babies, symptoms may include difficult breathing, poor feeding, tan color to the skin and eyes (jaundice), and seizures.
What are the symptoms of sickle cell trait (SCT)?
Most people with the condition have no direct health consequences due to the disorder. Some people with SCT can have blood in their urine. Because blood in the urine can be a sign of serious condition, such as bladder cancer, it is important to visit your doctor regularly if you have this symptom.
How is sickle cell disease (SCD) diagnosed?
If you or your child has symptoms of sickle cell disease, your healthcare provider may use a number of tests to diagnose the condition. If you do not know whether you make sickle hemoglobin, you can find out by having your blood tested. You may also have a genetic test performed on your blood. These tests look for specific changes in the genes that control how cells make and use hemoglobin.
Sources
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