Sickle cell disease, also called sickle cell anemia, is a hereditary problem (which mean it runs in families). It causes a type of faulty hemoglobin in red blood cells. Hemoglobin carries oxygen in the blood. Sickle cell disease commonly affects blacks and Latinos.
Normal red blood cells are disc-shaped and very flexible. In people who have sickle cell disease, some red blood cells can become hard and change shape so that they look like sickles or crescent moons. They don't move well through the smallest blood vessels. This can stop or slow blood flow to parts of the body, causing less oxygen to reach these areas. The sickle cells also die earlier than normal blood cells, which can cause a shortage of red blood cells in the body. For most people, there is no cure for sickle cell disease.
Sickle cell anemia can cause:
When the red blood cells of people who have sickle cell disease don't get enough oxygen, these cells change shape. They become longer and curved. Some people think they look like the blade of a cutting tool called a "sickle." Picture 1 shows normal red blood cells, and picture 2 shows sickle cells.
Sickle cells can get stuck in blood vessels and keep blood from reaching parts of the body. This causes pain and can damage the body's internal organs. Blocked blood vessels in the arms, legs, chest or abdomen can cause strong pain. Children who have sickle cell disease might get more infections because their spleen is damaged by sickle cells. (One of the spleen's main jobs is to protect against infection.) When sickle cells block blood flow to organs and cause pain and other problems, this is called a "sickle cell crisis," or a "pain crisis."
Blocked blood vessels in the brain can cause a stroke. This can cause brain cells to die. Strokes affect about 1 in every 10 children who have sickle cell disease.
Your doctor can do a special test to see if your child is at risk of a stroke. If your child is 2 years or older, you should ask your doctor if the test is needed. If the test shows a higher risk of stroke, your doctor will talk with you about the use of regular blood transfusions.
If your child has weakness in an arm or leg, has slurred speech, refuses to walk, or has unusual behavior, it may be a sign of a stroke; take him or her to the doctor right away.
You should call your doctor right away if you or your child has any of these signs:
The type of hemoglobin a person makes depends on what traits are inherited from his or her parents, much like hair or eye color is passed on. To get the hemoglobins that causes sickle cell disease, a child must inherit a sickle cell gene from both parents.
A child who inherits 1 normal gene from a parent and 1 sickle cell gene from the other is a "carrier."
A child born to one parent with the trait has a 50% chance of carrying the sickle cell trait and a 0% chance of having sickle cell disease. A child born to parents who both have the sickle cell trait (but not the disease) has a 50% chance of having the sickle cell trait and a 25% chance of getting the sickle cell disease. A child born to one parent with the disease and one parent who has the trait has a 50% chance of having sickle cell disease or the sickle cell trait.
In the United States, sickle cell disease is most common in people who came from, or whose ancestors came from, Africa, Central America (especially Panama), South America, Caribbean nations, Mediterranean countries, India or Near Eastern countries.
If you are at risk because of your family history or ethnic group, ask your doctor to check you for sickle cell trait or disease. Your doctor may order a blood test to see if you have sickle cell disease.
If you are at risk, ask your doctor to check you and your sexual partner for sickle cell trait or disease before you get pregnant. Then you will know if you might have a child with sickle cell disease. Your doctor might want you to get genetic testing. If you are already pregnant, you might get testing for your fetus.
Most states test newborn babies for sickle cell disease. If your state does not test for it, your doctor can order a special blood test for your baby. This test will show if your baby has sickle cell disease.
Treatment aims to prevent crises and relieve symptoms. If your child has sickle cell disease, he or she is at risk for some infections, lung problems and pain. Your child may need to take an antibiotic (usually penicillin) to prevent bad infections. Also, certain vitamins, like folic acid, can help your child's body replace damaged blood cells. Your child needs to have all of the recommended shots for children and a few special shots.
Your child will need to see your family doctor often for blood tests and to be checked for damage to internal organs. If your child has pain, fever, weakness or trouble breathing, he or she may need IV (intravenous) fluids (liquids given through a needle placed in your child's vein) and antibiotics. Your child may also need oxygen, blood transfusions and strong pain medicines. Special treatments will be needed if your child has organ damage.
Some over-the-counter medicines might help relieve mild pain. Taking acetaminophen (one brand name: Tylenol) or aspirin might help. Medicines like ibuprofen (two brand names: Advil, Motrin) or naproxen sodium (brand name: Aleve) might help if you can safely take these medicines. However, talk to your doctor before you take any medicine for your pain.
If you have moderate to severe pain, your doctor might prescribe a prescription pain reliever. Make sure to carefully follow your doctor's instructions for taking the medicine.
A heating pad, hot bath, rest or massage might help. Physical therapy to relax and strengthen your muscles and joints might lessen your pain. Individual counseling, self-hypnosis and activities to keep you from thinking about your pain (such as watching television or talking on the telephone) might also help.
It's important for you to have a positive attitude, create a supportive environment, and develop coping skills to help you deal with the disease. Strong family relationships and close personal friends can be helpful. A support group can also help you cope with the disease.
Work with your family doctor to set goals for coping with pain. Becoming more actively involved in your treatment will help you better manage the disease.
Usually, no. But with good care, people who have sickle cell disease can live a mostly normal life. Bone marrow transplants can cure the disease in a small number of people.
A sickle cell crisis happens when sickled red blood cells block small blood vessels that carry blood to your bones. This causes pain that can begin suddenly and last several hours to several days. You might have pain in your back, knees, legs, arms, chest or stomach. The pain can be throbbing, sharp, dull or stabbing. How often and how bad the pain gets varies a lot from person to person and from crisis to crisis.
You might be able to treat your pain crisis at home with medicines that you take by mouth. If these medicines don't control your pain, or if you can't keep fluids down, you might need to be treated in the emergency department. If your pain still isn't controlled or you have other problems, you might need to be treated in the hospital.
Most of the time, you won't know what caused your sickle cell crisis. A crisis usually has more than one cause. However, you can do several things to help keep a crisis from occurring:
Opportunities to Improve Outcomes in Sickle Cell Disease by SR Mehta, M.D., A Afenyi-Annan, M.D., M.P.H., PJ Byrns, M.D. and R Lottenberg, M.D. (American Family Physician July 15, 2006, http://www.aafp.org/afp/20060715/303.html)
Approach to the Vaso-occlusive Crisis in Adults with Sickle Cell Disease by SH Yale, N Nagib, T Guthrie (American Family Physician March 01, 2001, http://www.aafp.org/afp/20000301/1349.html)
Written by familydoctor.org editorial staff