Sickle Cell Disease in Children
What is sickle cell disease?
Sickle cell disease is an inherited blood disorder. This means it is passed down through the parent’s genes. It causes a problem with the hemoglobin, the protein in red blood cells that carries oxygen to the tissues of the body.
Sickle cell disease affects hemoglobin’s ability to carry oxygen. Normal hemoglobin cells are smooth, round, and flexible, like the letter "O." They can move through the blood vessels easily. Sickle cell hemoglobin cells are stiff and sticky. They are shaped like a sickle, or the letter "C." These sickle cells cluster together and can’t easily move through the blood vessels. They can block small arteries or capillaries. This stops the movement of healthy, normal oxygen-carrying blood. It also causes the painful and damaging complications of sickle cell disease.
Normal red blood cells can live up to 120 days. Sickle cells only live for about 10 to 20 days. The spleen helps filter the blood of infections. But, the sickled cells get stuck in this filter and die. When fewer hemoglobin cells are circulating in the body, it causes anemia. The sickle cells can also damage the spleen by blocking healthy oxygen carrying cells. Without a healthy spleen, children are more at risk for serious infections.
There are several complex variations of the sickle cell gene. Some don’t cause symptoms or serious complications, others do. Talk to your doctor about the specific form of sickle cell your child has.
What causes sickle cell disease?
Sickle cell is an inherited disease caused by a genetic defect. If a child inherits one gene from the mother and one from the father, he or she will be born with sickle cell disease. A person who has only one gene is healthy and said to be a "carrier" of the disease. They may also be described as having "sickle cell trait." A carrier has an increased chance of having a child with sickle cell disease.
Once parents have had a child with sickle cell disease, there is a1 in 4 or 25% chance with each later pregnancy, for another child to be born with sickle cell disease. This means that there is a 3 out of 4, or 75% chance, that another child will
not have sickle cell disease. There is a 50% chance that a child will be born with sickle cell trait, like the parents.
What are the risk factors for sickle cell disease?Sickle cell disease mainly affects those of African descent and Hispanics of Caribbean ancestry. But the trait has also been found in those with Middle Eastern, Indian, Latin American, American Indian, and Mediterranean heritage.
What are the symptoms of sickle cell disease?
Sickle cell disease can cause the following symptoms:
Anemia. This is the most common symptom of all the sickle cell diseases. Anemia can make a child pale and tired.
Jaundice, or yellowing of the skin, whites of the eyes, and inside of the mouth. Jaundice is a common symptom of sickle disease. The yellow coloring is from the breakdown of red blood cells.
Pain crisis, or sickle crisis. The pain can happen anywhere, but most often occurs in the chest, arms, and legs. It may also occur in fingers, toes, or the penis.
Acute chest syndrome. The sickled cells block the flow of oxygen in the lungs. This can be life threatening. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. It looks like pneumonia and can include fever, pain, and a violent cough.
Splenic sequestration (pooling). The spleen becomes enlarged and painful from the increase in blood. This can cause a sudden drop in hemoglobin and can be life threatening if not treated at once.
The symptoms of sickle cell disease may look like other disorders or medical problems. Always check with your child's doctor for a diagnosis.
How is sickle cell disease diagnosed?
Most states check newborns for abnormal hemoglobin as part of routine newborn screening tests. State newborn screening includes tests for all newborns within the first few days of life. These tests identify serious, life-threatening diseases.
Sickle cell disease may be found as part of newborn screening. Your family history, your child's medical history, and physical exam are all included in the diagnosis. If the screening test shows sickle cell anemia, hemoglobin electrophoresis or other blood tests are done. These tests look at the different kinds of hemoglobin in the blood.
How is sickle cell disease treated?
Your child’s healthcare provider will figure out the best treatment based on:
How old your child is
His or her overall health and medical history
How sick he or she is
How well your child can handle specific medicines, procedures, or therapies
How long the condition is expected to last
Your opinion or preference
Early diagnosis and prevention of complications is important in sickle cell disease treatment. Your child's health care provider will refer you to a hematologist. This is an expert in blood disorders. Other specialists may also be involved in your child's care.
Treatment options may include:
Pain medicines, for sickle cell crises
Drinking plenty of water daily (8 to 10 glasses) or receiving fluid intravenously (IV) to prevent dehydration
Blood transfusions, to treat anemia, chronic pain, acute chest syndrome, splenic sequestration, and to prevent stroke
Antibiotics, to prevent infections
Folic acid, to help prevent severe anemia
Hydroxyurea, a medicine to help reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for frequent blood transfusions.
Stem cell transplant. Transplants can cure sickle cell. Studies of this treatment are ongoing.
What are the complications of sickle cell disease?
Complications of sickle cell anemia include:
Long-term anemia may lead to delayed healing and delayed growth and development
Pain crisis, or sickle crisis
Acute chest syndrome. Multiple episodes of acute chest syndrome can cause permanent lung damage
Splenic sequestration (pooling). The spleen can become damaged and scarred after repeated episodes of splenic sequestration. Most children, by age 8, either have had their spleen removed or have permanent damage from repeated splenic sequestration. The risk of infection is a major concern for children without a working spleen. Infection is the major cause of death in children younger than age 5.
Stroke. If there is a blockage of the blood vessels to the brain, a stroke may occur. Serious long-term problems may result. A child who has had a stroke is more likely to have another one.
Priapism that is not promptly treated, can result in impotence or the inability to have an erection.
Any major organ may be affected by sickle cell disease. The following may result:
Leg ulcers or serious sores
How is sickle cell disease managed?
Advances in preventive care and new medications have reduced the life threatening complications of sickle cell. However, it is still a severe, chronic, and sometimes fatal disease. A child with sickle cell disease should be carefully managed by specialists. How a child is managed depends on the following:
Type of disorder
Severity of the disease
Frequency of complications
How well you follow preventive efforts
Also talk with your child's health care provider about the following:
Avoiding infections. Staying away from people who are sick, having all recommended immunizations (for example, pneumococcal) and screenings (for example, hepatitis C)
Having complete eye exams
Having stroke screening tests
When should I call my child's healthcare provider?
Call your child's healthcare provider or get medical care right away if your child develops:
Sudden pain, mainly in the chest, abdomen, arms, or legs
Key points about sickle cell disease
Sickle cell disease is an inherited blood disorder in which hemoglobin is abnormally shaped.
Sickle cell disease is most common among those of African descent.
Newborns are checked for sickle cell disease as part of a group of screening tests.
Early diagnosis and prevention of complications is important in sickle cell disease treatment.
Tips to help you get the most from a visit to your child’s healthcare provider:
Before your visit, write down questions you want answered.
At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child.
If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.