Sickle Cell Disease
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What is sickle cell disease?
Sickle cell disease, also called sickle cell anemia, is a hereditary problem (which means 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 is seen more in people from Africa, the Mediterranean, Caribbean, Middle East, South East Asia, Western Pacific Region, South America, and Central America. 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:
- Swollen hands and feet
- Jaundice (the yellowing of the skin and the whites of the eyes)
- Anemia (the decreased ability of the blood to carry oxygen because of a decrease in red blood cells)
- Severe pain
- Serious infections
- Organ damage
What happens to red blood cells in sickle cell disease, and what problems can this 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.”
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 healthcare provider 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 healthcare provider if the test is needed. If the test shows a higher risk of stroke, your healthcare provider 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 them to the healthcare provider right away.
When should I call my child’s healthcare provider?
You should call your healthcare provider right away if you or your child has any of these signs:
- Swollen hands or feet
- Sudden paleness of the skin or nail beds
- Yellow color of the skin or eyes (called jaundice)
- Fever or signs of infection
- Swelling in the abdomen (tummy)
- Sudden tiredness with no interest in what is going on
- Erection of the penis that won’t go away
- Trouble hearing or seeing
- Weakness on one side of the body or a sudden change in speech
- Trouble breathing
- Joint, stomach, chest or muscle pain, or limping
CAUSES & RISK FACTORS
How do people get sickle cell disease?
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 their children.
Who gets sickle cell disease?
In Canada, sickle cell disease is most common 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.
DIAGNOSIS & TESTS
How can my healthcare provider tell if I have sickle cell disease?
If you are at risk because of your family history or ethnic group, ask your healthcare provider to check you for sickle cell trait or disease. Your healthcare provider may order a blood test to see if you have sickle cell disease.
How can my healthcare provider tell if my baby has sickle cell disease?
If you are at risk, ask your healthcare provider 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 healthcare provider might want you to get genetic testing. If you are already pregnant, you might get testing for your fetus. In Nova Scotia and Prince Edward Island, sickle cell disease is screened in newborns by the Maritime Newborn Screening Program.
How is sickle cell disease treated?
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 healthcare provider will recommend the best treatment options for you. Your healthcare provider 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 healthcare provider will probably want to see you or your child often for blood tests and to check for complications.
What else can I do to control my symptoms?
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 healthcare provider to set goals for coping with your symptoms. Becoming more actively involved in your treatment will help you better manage the disease.
What problems can result from sickle cell 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 them 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.)
How can I prevent a sickle cell crisis?
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:
- Eat a balanced diet. Your healthcare provider may suggest you also take folic acid supplements to help make new red blood cells.
- Limit how much alcohol you drink.
- Don’t smoke. If you do smoke, quit.
- Exercise regularly but not so much that you become really tired. When you exercise, drink lots of fluids.
- Drink at least 8 glasses of water a day, especially during warm weather.
- Reduce or avoid stress. Contact your healthcare provider if you’re depressed or have problems at home or at work.
- Treat any infection as soon as it occurs. When in doubt, contact your healthcare provider.
- Try not to get too hot, too cold or too tired. Wear warm clothes outside in cold weather and inside in air-conditioned rooms during hot weather. Also, don’t swim in cold water.
- Tell your healthcare provider if you think you might have a sleep problem, such as snoring, or if you sometimes stop breathing for short periods of time during sleep (called apnea).
- If you have another medical condition, like diabetes, get treatment and control the condition.
- If you are pregnant or plan to become pregnant, get early prenatal care.
- Only travel in commercial airplanes. If you have to travel in an unpressurized aircraft, contact your healthcare provider about extra precautions.
QUESTIONS TO ASK YOUR HEALTHCARE PROVIDER
- Am I at risk of sickle cell disease?
- Is there anything I can do to prevent sickle cell disease?
- What are the symptoms of sickle cell disease?
- What should I do if I’m having a sickle cell crisis?
- How can I prevent a sickle cell crisis and other complications?
- Is my child at risk of sickle cell disease?
- Is there a cure for sickle cell disease?
FOR MORE INFORMATION
Sickle Cell Disease Association of Nova Scotia
Sickle Cell Disease Association of Canada
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. (07/15/06, 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 (03/01/01, http://www.aafp.org/afp/20000301/1349.html)