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Sickle cell disease 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 backwards “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 disease is inherited. 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 disease. 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 disease 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 the United States, it affects approximately 100,000 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 disease vary. Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment. Sickle cell disease 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 disease is critical so that children who have the disease can receive proper treatment. All 50 states and the District of Columbia 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 sample 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 disease 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 or CVS, is also another prenatal test. 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.
The goals of treating sickle cell disease are to relieve pain; prevent infections, eye damage, and strokes; and control complications (if they occur). A drug called Hydroxyurea (Hy-drox-y-urea) has been shown to reduce many of the complications related to sickle cell disease. Another drug, Endari, was approved by the Food and Drug Administration (FDA) in the summer of 2017. Endari, during testing, was shown to reduce the number of sickle cell pain crises. Other than Hydroxyurea and Endari, patients are treated with various pain control medicines depending on the severity of the pain.
Sickle cell disease has no widely available cure. Bone marrow transplants have cured sickle cell disease in a small number of 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 disease 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 disease 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 disease now live into their fifties or longer.
If you have sickle cell disease, it’s important to:
- Make sure you see a hematologist who is an expert in sickle cell disease
- Adopt or maintain a healthy lifestyle
- Take steps to prevent and control complications
- Learn safe ways to cope with pain