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Sickle cell disease
Sickle cell disease is an inherited disorder of the red blood cells characterized by abnormally shaped red cells. This abnormality can result in painful episodes, serious infections, chronic anemia, and damage to body organs. These effects can, however, vary from person to person depending on the type of sickle cell disease the person has.
Some individuals are relatively healthy and others are hospitalized frequently. But thanks to advancements in early diagnosis and treatment, most children born with this disorder grow up to live relatively healthy and productive lives.
A Closer Look at Sickle Cell Disease
The different forms of sickle cell disease are determined by the genes that are inherited from the person's parents.
An individual has the disease if he or she inherits a sickle cell gene from each parent (hemoglobin SS disease, also called sickle cell anemia).
He or she can also inherit a sickle cell gene from one parent and a different kind of abnormal gene from the other and end up with a different form of sickle cell disease, such as hemoglobin SC disease and hemoglobin S-thalassemia.
If an individual inherits only one sickle cell gene and a normal gene from the other parent, then he or she will have the sickle cell trait, but not the disease. A blood test can determine whether you have sickle cell disease or carry the sickle cell trait.
People with sickle cell trait don't have sickle cell disease or exhibit any signs of the disorder, but they can pass the gene for the disease to their children. When both parents have the sickle cell trait, there's a 25% chance that a child will have sickle cell disease. But when one parent is carrying the trait and the other actually has the disease, the odds increase to 50% that they will pass the disorder on to their child.
Who Does It Affect?
In the United States, hemoglobin SS disease (sickle cell anemia) affects mostly African Americans and some Latino Americans. Some forms of sickle cell disease may occur, although less frequently, in people with different ethnic backgrounds such as those whose ancestors came from Mediterranean countries (including Turkey, Greece, and Italy) or East India.
What Causes It?
A child with sickle cell disease has inherited a defective hemoglobin gene. In a child with sickle cell disease, the hemoglobin can take on an abnormal shape, distorting the shape of the red blood cell. The cells change from a normal round, doughnut shape to the elongated shape of a sickle, or the shape of a "C."
Unlike normal red blood cells, which move easily through small blood vessels, sickle cells are hard and pointed. The sickle shape means that they have a tendency to get stuck in narrow blood vessels and block the flow of blood. This can cause episodes of pain and can also lead to damage of the body organs because they aren't getting enough oxygen.
Sickle cells have a shorter-than-normal life span, which leads to anemia (low red blood cell count). A normal red blood cell lives for about 120 days, whereas a sickle cell lives for only 10 to 20 days.
How Is It Diagnosed?
Usually, sickle cell disease is diagnosed at birth with a blood test. This can be done in conjunction with other routine newborn screening tests. If your child tests positive on the screening test, a second blood test is usually performed to confirm the diagnosis.
Because children with sickle cell disease are at an increased risk of infection and other health complications, early diagnosis and treatment is important. Currently, more than 40 states have newborn screening programs for sickle cell disease.
What Are the Signs and Symptoms?
Symptoms of sickle cell disease vary and range from mild to severe, and symptoms may be less severe or different in children who have inherited a sickle cell gene from one parent and a different abnormal hemoglobin gene from the other.
Most children with sickle cell disease have some degree of anemia, and they may develop one or more of the following conditions and symptoms as part of the disorder:
Acute chest syndrome: Infection or trapped red blood cells in the lungs cause this syndrome. Signs include chest pain, coughing, difficulty breathing, and fever.
Aplastic crisis: This is when the bone marrow
temporarily slows its production of red blood cells due to infection
or another cause. Signs include paleness and fatigue.
Hand-foot syndrome (also called dactylitis): This may be the first sign of sickle cell anemia in some infants. Signs include painful swelling of the hands and feet and fever.
Infection: Children with sickle cell disease
are at increased risk for certain bacterial infections. It's important
to watch for fevers of 101 degrees Fahrenheit (38 degrees Celsius)
or higher, which could signal an infection. Children with sickle
cell disease and fever should be seen by a doctor immediately.
Painful crises: These may occur in any part of
a child's body. They may be brought on by cold or dehydration.
The pain may last a few hours or up to 2 weeks or even longer.
Splenic sequestration crises: The spleen becomes enlarged by trapping (or sequestering) the abnormal red blood cells. This leads to fewer cells in the general circulation. Early signs include paleness, weakness, an enlarged spleen, and pain in the abdomen.
Stroke: Poor blood flow in the brain can occur
from the sickle-shaped cells blocking small blood vessels. This
may lead to a stroke. Signs may include headache, seizures, weakness
of the arms and legs, speech problems, a facial droop, and loss
Other possible complications include leg ulcers, bone or joint damage, gallstones, kidney damage, painful prolonged erections in males (called priapism), eye damage, and delayed growth.
How Is It Treated?
Aside from a bone marrow transplant, there's no known cure for sickle cell disease. Transplants are complicated procedures and aren't an option for everyone. To qualify, a child would need a bone marrow donor providing a match with a low risk of being rejected. Even then, there are significant risks to the procedure, and there's always the chance of rejection of the transplanted marrow.
But even without a cure, children with sickle cell disease can lead relatively normal lives. Medicines are available to help manage the pain, whereas immunizations and daily doses of penicillin (an antibiotic) can help prevent infection.
Infection used to cause many deaths in infants with sickle cell disease, but thanks to penicillin and appropriate immunizations, children with sickle cell disease are much more likely to live longer, healthier lives.
Although penicillin isn't a cure, it can help prevent life-threatening infections due to bacteria that cause serious infections such as sepsis (a severe infection of the blood), meningitis, and pneumonia in children with sickle cell disease.
Infants and kids with sickle cell disease usually require two daily doses of penicillin, as prescribed by their doctors, until they're at least 5 years old. In addition, they should be fully immunized with the regular childhood vaccinations as well as influenza and meningococcal vaccines.
Most doctors also prescribe daily vitamin supplements for children with sickle cell disease. Folic acid, in particular, can help a child with the disorder produce new red blood cells.
In addition, children with sickle cell disease who develop serious complications (such as acute chest syndrome, severe anemia, or stroke) may receive regular transfusions of red blood cells to prevent or treat these complications.
Hydroxyurea is a drug that has been used for over a decade in adults with sickle cell disease. In 1998, the U.S. Food and Drug Administration (FDA) approved the use of hydroxyurea in patients over 18 years old, however, it has still not been approved for use in children.
Hydroxyurea increases the amount of fetal hemoglobin in the person's blood cells, which interferes with the sickling process and makes red blood cells less sticky. This helps decrease the number and intensity of painful episodes and other complications. The drug has been proven to decrease pain and other complications in children as well as adults. Research is continuing to determine the drug's long-term effects and safety.
When Should I Call My Child's Doctor?
Seek emergency medical attention and call your child's hematologist immediately if your child with sickle cell disease develops any of the following:
fever of 101 degrees Fahrenheit (38 degrees Celsius) or
pain that isn't relieved by medication
shortness of breath or trouble breathing
severe headaches or dizziness
severe stomach pain or swelling
jaundice or extreme paleness
painful erection in males
sudden change in vision
weakness or inability to move any part of the body
loss of consciousness
Caring for Your Child
In addition to your child's primary care doctor, your child should receive regular care from a hematologist (a blood specialist) or a sickle cell clinic. It's important to share your concerns and to discuss any new symptoms or complications with your child's doctor or nurse.
Your child should also be given plenty of fluids, get plenty of rest, and avoid extreme temperatures.
Most people with sickle cell disease now live into their mid-40s and beyond. The most critical time is the first few years of life, which is why early diagnosis and treatment are so important.