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:
Sickle cell disease is a genetic, inherited (also called hereditary) disorder, which means it runs in families. It is caused by a mutation in the gene that tells the body to make hemoglobin. Hemoglobin is the molecule in red blood cells that allows the red blood cells to carry oxygen. To get sickle cell disease, a child must inherit the mutated hemoglobin gene from both parents.
A child who inherits 1 normal gene from a parent and 1 mutated gene from the other is a "carrier." A person who is a carrier won’t have sickle cell disease, but may still pass the mutated gene on to his or her children.
In the United States, sickle cell disease is most common in blacks and Latinos. This includes 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.
In most people, sickle cell disease cannot be cured, so treatment aims to relieve symptoms and prevent complications. In certain rare cases, a bone marrow transplant may cure sickle cell disease, but this procedure requires a bone marrow donor and is risky. It usually is only suggested for people who suffer from severe symptoms or frequent complications.
Depending on your symptoms, your doctor will recommend the best treatment options for you. Your doctor may recommend medicines such as antibiotics and over-the-counter or prescription pain relievers. Blood transfusions can help increase the number of healthy, normal red blood cells in the blood, which helps relieve symptoms. Oxygen therapy (breathing oxygen through a mask) may also help relieve symptoms.
Your doctor will probably want to see you or your child often for blood tests and to check for complications.
A heating pad, hot bath, rest or massage might help relieve any pain. Physical therapy to relax and strengthen your muscles and joints might also lessen your pain. Individual counseling, self-hypnosis and activities to keep you from thinking about 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 your symptoms. Becoming more actively involved in your treatment will help you better manage the disease.
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. 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. If you notice that a person who has sickle cell disease 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 emergency room right away.
People 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.)
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