What is sickle cell disease?
Sickle cell disease changes normal, round red blood cells into cells that can be shaped like crescent moons. The name "sickle cell" comes from the crescent shape of the cells. A sickle is a farm tool with a curved blade that can cut crops like wheat.
Normal red blood cells move easily through your blood vessels, taking oxygen to every part of your body. But sickled cells can get stuck and block blood vessels, which stops the oxygen from getting through. That can cause a lot of pain. It can also harm organs, muscles, and bones.
See a picture of sickle cells blocking a blood vessel.
Having sickle cell disease means a lifelong battle against the health problems it can cause, such as pain, infections, anemia, and stroke. But many people are able to have a very good quality of life by learning to manage the disease.
What causes sickle cell disease?
Sickle cell disease is inherited, which means it is passed from parent to child. To get sickle cell disease, a child has to inherit two sickle cell genes-one from each parent.
When a child inherits the gene from just one parent, that child has sickle cell trait. Having this trait means that you do not have the disease but you are a carrier and could pass the gene on to your children.
What are the symptoms?
Painful events are the most common symptom of sickle cell disease. They are periods of pain that happen when sickled cells get stuck in blood vessels and block the blood flow. These events usually cause pain in the hands, feet, belly, back, or chest. The pain may last for hours or for days.
People with sickle cell disease often have anemia, caused by a shortage of red blood cells. Anemia makes you feel weak and tired. People with sickle cell anemia may look pale or washed out. Their skin and the whites of their eyes may have a yellowish look (jaundice).
Doctors cannot yet tell which symptoms a child born with sickle cell disease will have, when they will start, or how serious they will be.
How is sickle cell disease diagnosed?
A simple blood test can show whether a person has sickle cell disease. Infants at high risk for sickle cell disease may be screened before they go home from the hospital.
How is it treated?
Managing pain is often a big part of having sickle cell disease. You can prepare for a painful event ahead of time by creating a pain management plan with your doctor. The plan should include what you can do at home to relieve pain for yourself or your child. The plan should also tell you when it is best to call a doctor or go to a hospital.
Some people need regular blood transfusions to lower the risk of stroke and treat anemia and other problems.
Regular checkups are an important part of life with this disease. People with sickle cell disease need a good working relationship with a doctor who is an expert in treating it.
How do you manage life with sickle cell disease?
Frequently Asked Questions
Learning about sickle cell disease:
Living with sickle cell disease:
Sickle cell disease is an inherited disorder. More specifically, sickle cell disease is an autosomal recessive disease. This means that to have the disease, you must inherit a gene for the disease from both parents.
Painful events (crises) in the hands or feet, abdomen, back, or chest are the most common symptom of sickle cell disease. This pain may last from hours to days. Most people with sickle cell disease experience anemia. Symptoms of anemia include feeling weak and tired. People with sickle cell disease can appear pale or washed out. Or they have a yellowish look to their skin and the whites of their eyes (jaundice).
When a child is born with sickle cell disease, it isn't possible to predict which symptoms will appear, when they will start, or how bad they will be. Most symptoms of sickle cell disease are related to either long-term (chronic) anemia or blood vessels blocked by sickled cells.
Symptoms related to chronic anemia
Most people who have sickle cell disease have at least mild symptoms of chronic anemia, which may include:
Severe anemia may raise the chance of a person with sickle cell disease getting high blood pressure in the lungs (pulmonary hypertension), and this can be deadly.
Symptoms caused by blocked blood vessels
Pain symptoms caused by blocked blood vessels in bones, organs, and other tissues include hours to days of extreme pain. These painful events can occur rarely to often. Sometimes home treatment can help the pain. And sometimes a hospital stay is needed.
Children ages 6 months to 4 years may have episodes of extreme pain in the hands, the feet, or both (hand-foot syndrome).
Normal red blood cells have a 120-day lifespan. But people born with sickle cell disease have sickle-shaped blood cells that usually live no more than 20 days. These sickled cells can get stuck in blood vessels, blocking blood flow. See a picture of sickle cells blocking a blood vessel.
Less blood flow can damage the body's organs, muscles, and bones, sometimes leading to life-threatening conditions. Sickle cell disease may cause problems such as:
When a child is born with sickle cell disease, it's impossible to predict which problems will develop, when they will start, or how bad they will be. During the first 6 months of life, infants have a high level of fetal hemoglobin (HbF) in their blood, which protects them from red blood cell sickling. But dangerous complications of sickle cell disease may quickly develop between ages 6 months and 5 years, after levels of fetal hemoglobin decrease. Normal red blood cells have a 120-day lifespan, but sickled blood cells usually live no more than 20 days. When bone marrow can't produce enough red blood cells to keep up with sickled blood cell loss, severe anemia may develop.
Older children and adults with sickle cell disease may have few problems or have a pattern of ongoing complications that shortens their lives. The most common and serious problems caused by sickle cell disease are anemia, pain, and organ failure. Stroke affects around 10% of children with sickle cell disease.1
Other complications of sickle cell disease include:
People who have sickle cell disease live to age 50 to 60, on average. A lot depends on the type of sickle cell disorder and how it affects a person's health.
Sickle cell disease is an inherited blood disorder, passed from parent to child. Children with sickle cell disease have two defective genes, one from each parent. Various forms of sickle cell disorder occur when a person inherits one sickle cell gene and one other type of defective hemoglobin gene.
People who inherit one defective hemoglobin S gene and one normal hemoglobin A gene have sickle cell trait. They don't have symptoms of sickle cell disease nor do their bodies make sickled blood cells. But they have a 50% chance of passing the defective hemoglobin S gene to each of their children.
People whose ancestors were from Africa, India, the Middle East, the Mediterranean (Turkey, Italy, Greece), and some Latin American countries are more likely to inherit the gene that can cause sickle cell disease.
For more information, see a picture of the risk of passing on an autosomal recessive disease such as sickle cell disease.
Risk of painful events and complications caused by sickling
Triggers that can cause red blood cells to sickle include:
Call 911 or other emergency services immediately if you have sickle cell disease and one or more of the following symptoms are present:
Call your doctor if you or your child has any of the following symptoms:
Make a plan with your doctor that includes where and when to get treatment in case of a sickle cell emergency.
Watchful waiting is when you and your doctor watch your symptoms to see if your health improves on its own. If it does, no treatment is necessary. If your symptoms don't get better or get worse, then it's time to take the next treatment step. Some complications of sickle cell disease may not need immediate medical attention from a doctor. In these cases, you can try home treatment.
Painful events can be treated at home depending on how severe the pain is and how long you've had it. Try over-the-counter pain medicine for mild pain. Or take a stronger medicine, if prescribed by your doctor. If this doesn't work, contact your doctor or seek emergency medical treatment.
You may treat persistent, painful erection of the penis (priapism) at home by drinking fluids, taking over-the-counter pain medicine, and urinating as much as possible. If this doesn't solve the problem within 2 to 3 hours, seek emergency medical treatment.
You may be referred to other health professionals who provide specialized treatment or counselling:
To prepare for your appointment, see the topic Making the Most of Your Appointment.
Doctors can diagnose sickle cell disease before a child is born (prenatally). Couples who are at risk for passing on this disease to their offspring may want to talk with a genetic counsellor about prenatal testing.
Sickle cell disease can be diagnosed at birth. Infants at high risk for sickle cell disease may be screened before they go home from the hospital. You can also request screening.
Soon after birth, a sample of blood is taken from the infant's heel and sent to a lab, where it is screened for the presence of sickle cell hemoglobin (hemoglobin S).
If one member of a couple has sickle cell disease or sickle cell trait, the other member should be tested before becoming pregnant. This test requires a blood sample, which is screened for the presence of hemoglobin S, hemoglobin C, or beta-thalassemia.
If one or both members of a couple carry a hemoglobin S gene or another abnormal hemoglobin gene, the couple may want to meet with a genetic counsellor before becoming pregnant to learn more about their chances of having a child with sickle cell disease. Your doctor can help you find a genetic counsellor to discuss a genetic test.
Successful treatment of sickle cell disease requires:
When parents learn that their baby has sickle cell disease, it's the beginning of a lifelong education process. Knowing as much as possible about the disease can help you control symptoms as they arise and know what to do in emergency situations. Initial treatment includes:
Starting at age 2 years, your child should get screened every now and then with a transcranial ultrasound.1 This test measures blood flow in the arteries of the head and neck. If test results show a high chance for stroke, your child may get blood transfusions to lower the risk.
Children age 1 to 5 years who have sickle cell disease often receive daily antibiotics, such as penicillin, to prevent life-threatening infections. This practice stops at age 5 because older children don't have as many severe infections.
Routine lab tests to monitor health include:
Pain is sometimes a chronic problem for people with sickle cell disease. Your doctor or a pain treatment specialist can help you develop pain management skills. These skills include distraction, guided imagery, deep breathing, relaxation, and positive self-talk.
You can sometimes treat mild pain with pain medicines while at home. But call your doctor or go to the hospital if your pain is not controlled.
Severe episodes of prolonged erection of the penis (priapism) need evaluation by your doctor. Treatment may include fluids (hydration), pain medicines, treatment by a urologist, and blood transfusions.
If your child with sickle cell disease is at high risk for a stroke, your doctor may recommend blood transfusions, which may reduce this risk.
Acute chest syndrome may develop after a painful event or another illness and can be life-threatening. Early treatment is very important and may include oxygen, pain medicines, antibiotics, and transfusions.
You may not notice vision problems until damage has begun. Have your child's eyes checked when he or she is a newborn and again at all routine well-child visits. And get routine eye examinations as an adult. Try to go to a doctor who specializes in eye problems (ophthalmologist).
People with sickle cell disease should avoid contact with anyone suspected of having fifth disease, which is caused by parvovirus. Parvovirus can cause the body to temporarily stop making blood cells, a severe life-threatening problem in someone with sickle cell disease. Aplastic anemia can develop as a result of a shortage of red blood cells. It can come on suddenly and is life-threatening if not treated.
Find out more about home treatment for sickle cell disease:
Treatment for severe cases of sickle cell disease may include:
Organ failure can affect any part of the body in a person who has sickle cell disease. Treatment may include transfusions, medicines, and surgery. Surgery options include:
Identifying children at risk and treating them with blood transfusions may prevent strokes and other nervous system problems. A child or adult with sickle cell disease who has a stroke needs immediate medical help including medicines and transfusions.
Pregnant women who have sickle cell disease need specialized medical care.
A series of blood transfusions is the treatment of choice to prevent strokes and treat other aspects of this disease. But if you get a lot of them, you could develop antibodies that attack and destroy the donor blood. This is called alloimmunization. It occurs in about 1 out of 4 people with sickle cell disease who get frequent transfusions.2
Painful events and serious complications of the disease can happen suddenly and unpredictably and can become life-threatening. Bouts of severe pain can last for hours to days and are difficult to treat. They're exhausting for caregivers as well as for the person in pain. For more information, see the topic Chronic Pain.
Sickle cell disease is an inherited blood disorder that is not preventable. But a couple may meet with a genetic counsellor before becoming pregnant to learn more about their chances of having a child with sickle cell disease. People whose ancestors were from Africa, India, the Middle East, the Mediterranean (Turkey, Italy, Greece), and some Latin American countries are more likely to inherit the gene that can cause sickle cell disease.
Home treatment for sickle cell disease includes steps to control pain and prevent complications of the disease. If you don't already have a home treatment plan, ask your doctor to help you develop one. Use this plan whenever symptoms are present. Your plan may include:
Children with sickle cell disease need standard immunizations, such as pneumococcal, Haemophilus influnzae type b (Hib), meningococcal, and flu shots. Also, children younger than 5 years need to take a daily antibiotic, such as penicillin, to prevent infection.
You can help your child cope with special needs in school by:
Children with sickle cell disease can usually exercise and play normally if they:
Folic acid supplements are often a necessary part of the diet for people with sickle cell disease, particularly if you aren't eating enough folate-rich leafy vegetables (such as spinach).
Medicines that treat sickle cell disease include hydroxyurea and various pain medicines. Some of these medicines require a prescription. Others are available over-the-counter. Pain medicine may work best when combined with pain management skills, such as distraction, guided imagery, deep breathing, relaxation, and positive, encouraging self-talk.
Hydroxyurea increases fetal hemoglobin production, which can decrease the severity of sickle cell disease.
Pain treatment for sickle cell disease pain varies depending on how bad the pain is and how long the pain lasts. Medicines that treat sickle cell disease pain include over-the-counter pain relievers such as ibuprofen and prescription opioids such as codeine. Opiate pain medicines are used under careful medical supervision.
There is no surgical cure for sickle cell disease.
Some sickle cell disease complications are treated by surgery. These surgeries involve:
Blood transfusions may be used for sickle cell disease. Blood transfusions can reduce the risk of some complications of sickle cell disease and improve symptoms of severe anemia. But there is a downside to this practice: repeat transfusions can cause complications. So doctors weigh benefits and risks before suggesting this procedure.
Bone marrow transplants are still experimental and not commonly used to treat sickle cell disease.
Studies continue to test new therapies to decrease cell sickling and improve blood flow.
|American Pain Society|
|4700 W. Lake Avenue|
|Glenview, IL 60025|
The American Pain Society is a group of scientists, clinicians, and others. This group seeks to advance pain-related research, educate people about pain, and change public policy and clinical practice to reduce pain-related suffering.
|Canadian Paediatric Society|
|2305 Saint Laurent Boulevard|
|Ottawa, ON K1G 4J8|
The Canadian Paediatric Society (CPS) promotes quality health care for Canadian children and establishes guidelines for paediatric care. The organization offers educational materials on a variety of topics, including information on immunizations, pregnancy, safety issues, and teen health.
|Centers for Disease Control and Prevention (CDC): National Center on Birth Defects and Developmental Disabilities (NCBDDD)|
|1600 Clifton Road, MS E-87|
|Atlanta, GA 30333|
NCBDDD aims to find the cause of and prevent birth defects and developmental disabilities. This agency works to help people of all ages with disabilities live to the fullest. The website has information on many topics, including genetics, autism, ADHD, fetal alcohol spectrum disorders, diabetes and pregnancy, blood disorders, and hearing loss.
|Sickle Cell Disease Association of America (SCDAA)|
|231 East Baltimore Street|
|Baltimore, MD 21202|
The Sickle Cell Disease Association of America is a national membership organization that provides education, research updates, and support around sickle cell disease problems. Its Web site has the Sickle Cell Disease Forum for people of all ages to discuss concerns about sickle cell disease.
|U.S. National Heart, Lung, and Blood Institute (NHLBI)|
|P.O. Box 30105|
|Bethesda, MD 20824-0105|
The U.S. National Heart, Lung, and Blood Institute (NHLBI) information center offers information and publications about preventing and treating:
- Goldstein LB, et al. (2006). Primary prevention of ischemic stroke: A guideline from the American Heart Association/American Stroke Association Stroke Council. Stroke, 37(6): 1583–1633.
- Steinberg MH (2008). Sickle cell disease and associated hemoglobinopathies. In L Goldman, D Ausiello, eds., Cecil Medicine, 23rd ed., pp. 1217–1226. Philadelphia: Saunders Elsevier.
Other Works Consulted
- American Academy of Pediatrics, et al. (2003, reaffirmed 2007). Policy statement: Eye examination in infants, children, and young adults by pediatricians. Pediatrics, 111(4): 902–907.
- Brawley OW, et al. (2008). National Institutes of Health consensus development conference statement: Hydroxyurea treatment for sickle cell disease. Annals of Internal Medicine, 148(12): 932–938.
- Committee on Genetics, American Academy of Pediatrics (2002, reaffirmed 2006). Health supervision for children with sickle cell disease. Pediatrics, 109(3): 526–535.
- Hirst C, Owusu-Ofori S (2002). Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease. Cochrane Database of Systematic Reviews (3). Oxford: Update Software.
- Natarajan K, et al. (2010). Disorders of hemoglobin structure: Sickle cell anemia and related abnormalities. In K Kaushansky et al., eds., Williams Hematology, 8th ed., pp. 709–741. New York: McGraw-Hill.
- National Heart, Lung, and Blood Institute, National Institutes of Health (2002). The Management of Sickle Cell Disease (NIH Publication No. 02-2117). Available online: http://www.nhlbi.nih.gov/health/prof/blood/sickle/.
- U.S. Preventive Services Task Force (2007). Screening for Sickle Cell Disease in Newborns. Available online: http://www.ahrq.gov/clinic/uspstf/uspshemo.htm.
|Primary Medical Reviewer||E. Gregory Thompson, MD - Internal Medicine|
|Primary Medical Reviewer||Brian D. O'Brien, MD - Internal Medicine|
|Specialist Medical Reviewer||Martin Steinberg, MD - Hematology|
|Last Revised||January 11, 2011|
Last Revised: January 11, 2011
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