Sickle Cell Disease
Children’s National Medical Center is at the forefront in treating children with sickle cell disease. The Sickle Cell Disease Program is one of the largest in the country, treating more than 1,200 children annually.
Children’s Sickle Cell Program team is dedicated to finding new and more effective therapies by participating in clinical trials sponsored by the National Institutes of Health.
The program addresses all aspects of a child’s needs and includes doctors, nurse practitioners, nurses, physician assistants, social workers, and psychologists who work together to give patients the best possible quality of life. The team also strives to develop strong relationships with patients and their families through support services, such as stress management techniques.
In addition, the Patient and Family Support Program provides comprehensive mental health and psychosocial services and helpful resources for all patients treated in the Center for Cancer and Blood Disorders, as well as patients’ parents and siblings.
What is sickle cell disease?
Sickle cell disease primarily affects people of African descent and Hispanics of Caribbean ancestry, but the trait also has been found in people with Middle Eastern, Indian, Latin American, Native American, and Mediterranean heritage.
More than 72,000 people in the United States are estimated to be affected by the disease, and millions suffer complications from sickle cell disease worldwide.
Sickle cell disease is an inherited red blood cell disorder characterized by abnormal hemoglobin, a protein within red blood cells that carries oxygen to the tissues of the body.
Normal red blood cells are smooth, round, and flexible so they can move through the vessels in our bodies easily. In people with sickle cell disease, red blood cells are stiff and sticky, and form into the shape of a sickle (like the letter “C”) when they lose their oxygen. These sickle-shaped cells tend to cluster together and they cannot move through the blood vessels easily. The clusters cause blockages and stop the movement of healthy, normal, oxygen-carrying blood. These blockages are what cause the painful and damaging complications of sickle cell disease. These cells fragment easily; therefore, there are fewer red blood cells circulating in the body. So, a person with sickle cell disease has anemia all of the time.
Red blood cells with sickle hemoglobin only circulate in the body for 10 to 20 days, while red blood cells with normal hemoglobin can circulate in the body up to 120 days. Because of their shape and stiffness, sickle cells are often destroyed when they get stuck in the spleen when it filters blood. The spleen then may get big or function poorly. Without a normally functioning spleen, people with this condition are at greater risk for infections. In infants and young children, such infections can be life threatening.
The most common variations of the sickle cell gene are:
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Sickle cell trait, in which the child is carrying the defective gene but also has some normal hemoglobin. Children with the sickle cell trait don’t usually have symptoms of the disease, but some may have mild anemia. Under intense stressful conditions, exhaustion, hypoxia (very low oxygen), and/or severe infection, the defective hemoglobin can sickle and cause some complications associated with the sickle cell disease.
- Sickle cell anemia, in which most or all of the normal hemoglobin is replaced with the sickle hemoglobin. It is the most common and most severe form of the sickle cell variations. These children suffer from a variety of complications, including severe and chronic anemia.
- Sickle cell-hemoglobin C disease, in which the child has both sickle cell disease and hemoglobin C disease, another hemoglobin disorder. Having just some hemoglobin C and normal hemoglobin, a person will not have any symptoms of anemia. However, children with sickle cell hemoglobin C disease can suffer from mild to moderate anemia as well as some of the complications associated with sickle cell disease, but to a milder degree. These risks include blood flow blockage, organ damage from repeated sickling and anemia, and risk for infection.
- Sickle cell–hemoglobin E disease, which is similar to sickle cell-hemoglobin C disease, except that here there is a combination of sickle and another hemoglobin called E. This variation also is often seen in people native to Southeast Asia. Some children with hemoglobin E disease do not have symptoms. However, under certain conditions, such as exhaustion, hypoxia, severe infection, and/or iron deficiency, mild to moderate anemia may occur.
- In hemoglobin S-beta-thalassemia, the thalassemia and sickle cell genes have been inherited. The disorder produces symptoms of moderate anemia and many of the same conditions associated with sickle cell disease. Although this disorder more often has milder symptoms than sickle cell disease, it also can produce problems as severe as those of sickle cell disease.
What causes sickle cell disease?
Sickle cell is an inherited disease caused by a genetic mutation in the globin gene, which controls hemoglobin production. Genes are found on structures in the cells of our body called chromosomes. There are normally 46 chromosomes, arranged in 23 pairs, in each cell of our body. The eleventh pair of chromosomes contains a gene responsible for normal hemoglobin production.
A mutation, or error, in this gene is what causes sickle cell disease. There are many of these mutations that are thought to have originated in areas of the world where malaria was common, because the gene for sickle cell disease protects those who have it from getting malaria, which is carried by mosquitoes. Malaria is most often seen in Africa and in the Mediterranean area of Europe.
How sickle cell disease is inherited?
An infant will be born with sickle cell disease if he or she inherits two sickle genes – one from the mother and one from the father. A person who has only one of these genes is healthy and said to be a “carrier” of the sickle cell trait. A carrier has an increased chance of being the parent of a child with sickle cell disease. Both male and female infants have an equal chance of being born with sickle cell disease.
Once parents have had a child with sickle cell disease, there is a one in four, or 25 percent, chance that any other children they have will be born with the disease, and that means, too, that there is a three out of four, or 75 percent chance that another child will not have sickle cell disease. And there is a 50 percent chance that a child will be a carrier of the disease, like the parents.
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What are the symptoms of sickle cell disease?
The following is a list of symptoms and complications associated with sickle cell disease. Each child may experience symptoms differently. Symptoms and complications may include, but are not limited to, the following:
Any and all major organs are affected by sickle cell disease. The liver, heart, kidneys, gallbladder, eyes, bones, and joints can suffer damage from the abnormal function of the sickle cells and from their inability to flow through the small blood vessels correctly. Problems may include the following:
- Anemia, which is caused by a lack of healthy red blood cells. Severe anemia can make a child pale and tired, and makes the child’s ability to carry oxygen to the tissues more difficult. Chronic anemia may delay healing and normal growth.
- Pain crisis, or sickle crisis, occurs when blood flow is blocked to an area because the sickled cells have become stuck in the blood vessel. The pain can occur anywhere, but most often occurs in the chest, arms, and legs. Painful swelling of the fingers and toes, called dactylitis, can occur in infants and children under 3 years of age. Priapism is a painful sickling that occurs in the penis.
- Acute chest syndrome occurs when sickled cells block the flow of oxygen in the tiny vessels in the lungs. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. It resembles pneumonia and can include fever, pain, and a violent cough. Multiple episodes of acute chest syndrome can cause permanent lung damage.
- Splenic sequestration (pooling) crises happen when sickle cells pool in the spleen. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. The spleen also can become enlarged and painful from the increase in blood volume.
- Stroke can occur when sickle cells block the major blood vessels that supply the brain with oxygen. Any interruption in the flow of blood and oxygen to the brain can result in devastating neurological consequences. Having had one stroke, a child is much more likely to have a second and third stroke unless treated.
- Jaundice, or yellowing of the skin, eyes, and oral mucosa is a common sign and symptom of sickle disease. Sickle cells do not circulate in the body as long as normal red blood cells; therefore, they die more rapidly than the liver can filter them out. Bilirubin (which causes the yellow color) from these broken down cells, causes jaundice.
The symptoms of sickle cell disease may resemble other blood disorders or medical problems. Always consult your child's physician for a diagnosis.
- Heart disease
- Liver damage
- Increased infections
- Kidney damage and loss of body water in urine
- Eye damage
- Leg ulcers
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How is sickle cell disease diagnosed?
In addition to a complete medical history and physical examination, diagnostic tests can include a complete family history, analysis of newborn screening results and additional tests for sickle and other hemoglobin disorders, such as C and E.
Many states now perform hemoglobinopathy testing as part of the newborn screening blood tests that are routinely done. Early diagnosis is essential in providing proper preventive treatment for some of the devastating complications of the disease.
A hemoglobin electrophoresis blood test can be performed to determine if the child is a carrier of sickle cell trait or has any of the complex hemoglobin disorders associated with sickle cell.
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Through blood transfusions and new drug treatments, Children’s specialists ease sickle cell disease’s effects and have even cured the disease through hematopoietic stem cell transplantation (HSCT).
Children’s multi-disciplinary team works with patients and families to develop individual treatment plans for each child. With both clinicians and researchers on the team, they can offer an ever wider range of options for families.
Specific treatment for sickle cell disease and its complications will be determined by a child’s physician based on the:
Early diagnosis and prevention of complications is critical in sickle cell disease treatment.
- Child’s age, overall health, and medical history
- Extent of the disease
- Child’s tolerance for specific medications, procedures or therapies
- Expectations for the course of the disease
- The patient and family’s opinion or preference
Treatment options may include, but are not limited to, the following:
Blood and marrow transplantation
- Pain medications for sickle cell crises.
- Drinking plenty of water daily (eight to 10 glasses) or receiving fluid intravenously to prevent and treat pain crises.
- Blood transfusions for anemia and to prevent stroke and to dilute the sickle cell hemoglobin with normal hemoglobin to treat acute chest syndrome and splenic sequestration.
- Penicillin to prevent infections.
- Folic acid to help prevent severe anemia.
- Hydroxyurea, a medication that may help reduce the frequency of pain crises and acute chest syndrome as well help decrease the need for frequent blood transfusions.
- Immunizations for all childhood diseases, such as pneumococcal, meningococcal disease and hepatitis virus.
Blood and marrow transplantation is the only treatment option available today that can cure sickle cell disease. Study results show there is an 85 to 90 chance a patient will be cured in matched related transplants. Other treatment choices may lessen the complications of sickle cell disease, but do not cure the disease.
The Division of Blood and Marrow Transplant (BMT) at Children’s National Medical Center has been performing transplants since 1988 and performed the first bone marrow transplant for a patient with sickle cell disease in 1996.
The BMT team has extensive experience in blood and marrow transplants for sickle cell disease. Independent of the medical staff, Children’s will gladly provide a medical ethics team to assure that all patients and families are treated safely and fairly.
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Stress management for patients and families
Stress can increase a person’s heart rate and muscle tension, and frequent or intense stress also increases the risk of pain crises in people with sickle cell disease. At Children’s, the stress management team of psychologists and social workers can help both children with sickle cell disease and their parents learn stress management techniques. This involves identifying sources of stress and learning ways to reduce those stressors.
Children’s Sickle Cell Disease Program stress management team can help children and parents develop skills to better manage stress, including:
Don’t be afraid to ask for help—from the stress management team, friends or family —before stress affects quality of life. Team members are ready and able to provide support. Download the Preventing and Managing Pain in Children and Adolescents with Sickle Cell Disease brochure.
- Using relaxation techniques such as breathing, visualization, and meditation to help recover from stress.
- Setting routines so that lives are more predictable, such as having meals and bedtimes around the same time each day.
- Setting goals to work toward what’s most important rather than being distracted.
- Planning ahead to avoid unexpected obstacles.
- Obtaining additional help with school-related and other tasks.
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Long-term outlook for a child with sickle cell disease
Several factors predict the long-term survival of a child with this disease including the:
The life expectancy for people with sickle cell disease has increased over the past 30 years, and many such individuals can now live into their mid-40s and beyond. Advances in preventive care and new medications have reduced the life-threatening complications. However, it is still a severe, chronic, and sometimes fatal disease.
- Type of sickle cell disorder or other hemoglobin disorder
- Severity of the disease
- Frequency of complications
- Compliance with preventative regimens
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Sickle Cell Disease - Departments & Programs - Children's National Medical Center