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Sickle cell anemia (uh-NEE-me-uh) is a serious disease in which the body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a “C.”

Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain the protein hemoglobin (HEE-muh-glow-bin). This iron-rich protein gives blood its red color and carries oxygen from the lungs to the rest of the body.

Sickle cell anemia is an inherited disease. People who have the disease inherit two copies of the sickle cell gene—one from each parent. Two copies of the sickle cell gene are needed for the body to make the abnormal hemoglobin found in sickle cell anemia.
If you inherit only one copy of the sickle cell gene (from one parent), you will not have sickle cell anemia. Instead, you will have sickle cell trait. People who have sickle cell trait usually have no symptoms and lead normal lives. However, they can pass the sickle cell gene to their children.
Sickle cell anemia affects millions of people throughout the world. It is particularly common among people whose ancestors come from sub- Saharan Africa; Spanish speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries, such as Turkey, Greece, and Italy.

In this country, it affects approximately 72,000 people, most of whose ancestors, come from Africa. The disease occurs in approximately 1 in every 500 African-American births and 1 in every 900 Hispanic American births. Approximately 2 million Americans, or 1 in 12 African Americans, and 1 in 16 Hispanic carry the sickle cell trait.

The signs and symptoms of sickle cell anemia vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment. Sickle cell anemia is present at birth, but many infants don’t show any signs until after 4 months of age. The most common signs and symptoms are linked to anemia and pain. Other signs and symptoms are linked to the disease’s complications.
Early diagnosis of sickle cell anemia is critical so that children who have the disease can receive proper treatment. More than 40 states now perform a simple, inexpensive blood test for sickle cell disease on all newborn infants. This test is performed at the same time and from the same blood samples as other routine newborn screening tests. Hemoglobin electrophoresis is the most widely used diagnostic test.

If the test shows the presence of sickle hemoglobin, a second blood test is performed to confirm the diagnosis. These tests also tell whether the child carries the sickle cell trait.

Yes. It is possible for doctors to diagnose sickle cell anemia before birth. This is done using a sample of amniotic fluid or tissue taken from the placenta. (Amniotic fluid is the fluid in the sac surrounding a growing embryo. The placenta is the organ that attaches the umbilical cord to the mother’s womb.) This test can be done as early as the first few months of pregnancy. The test looks for the sickle cell gene, rather than the hemoglobin that the gene makes.

Chorionic Villus Sampling is also another prenatal test. Chorionic villus sampling or CVS is a test done during early pregnancy that can find certain genetic problems with the fetus. The test is commonly done when either you or the baby biology father has a disease that runs in the family. The test can be done as early as 10 to 12 weeks. You should consult with your physician for further information.

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, eye damage, and strokes; and control complications (if they occur). Bone marrow transplants may offer a cure in a small number of sickle cell anemia cases. Researchers continue to look for new treatments for the disease. These include gene therapy and improved bone marrow transplants.

How can family and friends of someone with sickle cell anemia help them cope?Sickle cell patients and their families may need help in handling the economic and psychological stresses of coping with this serious chronic disease. Sickle cell centers and clinics can provide information and counseling on handling these problems. Parents should try to learn as much about the disease as possible so that they can recognize early signs of complications and seek early treatment.

With good health care, many people who have sickle cell anemia can live productive lives. They also can have reasonably good health much of the time and live longer today than in the past. Many people who have sickle cell anemia now live into their forties or fifties, or longer.

If you have sickle cell anemia, it’s important to:

Adopt or maintain a healthy lifestyle
Take steps to prevent and control complications
Learn ways to cope with pain

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