Sickle cell anemia is an inherited disorder caused by a mutation in the HBB gene, which provides instructions to build part of hemoglobin, a protein located inside red blood cells and carries oxygen. The faulty hemoglobin is called hemoglobin S and causes the red blood cells to adopt a sickle shape. In most patients, symptoms appear during the first year of life, often around five months of age.
Diagnosing sickle cell anemia in children
Sickle cell screening is part of routine newborn screening in many countries, including the U.S. and the U.K., where the presence of abnormal hemoglobin protein is detected with a blood test. Family history, the child’s medical history, and a physical exam also are included in the screening.
Infections and sickle cell anemia
Sickle-shaped red blood cells tend to get trapped inside small blood vessels. If this happens in the spleen it can lead to a condition known as splenic sequestration, in which the blood stays inside the spleen and cannot flow through. This leads to an enlargement of the spleen, which can be painful and be felt from the outside of the body. If the spleen enlarges rapidly, this can cause severe anemia. The spleen also may enlarge slowly over several weeks, in which case the red blood cell count changes only slightly. Parents should monitor the size of their child’s spleen and see a doctor if it appears to be enlarged. Splenic sequestration can occur as early as two months of age, but usually appears between six months and five years.
Repeated splenic sequestrations can damage the spleen permanently and cause scarring. The spleen has an essential role in fighting infections so spleen damage increases the susceptibility to infections in children with sickle cell anemia. In addition to colds, sore throats, and ear infections that are common in other children, these children have a higher risk of severe infections such as meningitis (infection around the brain), septicemia (infection of the blood), osteomyelitis (infection of the bone), and pneumonia (infection of the lungs).
To decrease the risk of infection, it is essential that the child receives all recommended vaccinations. Pneumococcal vaccines are especially important because they protect from septicemia, pneumonia, and meningitis.
Septicemia is the primary cause of death in children with anemia. Penicillin treatment can help prevent the infection. It has to be taken every day, ideally twice a day with 12 hours between doses. When the child has a fever with a temperature above 101.5 °F (38.3 °C), he or she needs to see a doctor immediately.
Pain in children with sickle cell anemia
Painful episodes are frequent in sickle cell anemia patients and they occur during childhood, but are less frequent in babies. They are caused mostly by sickle red blood cells getting trapped inside small blood vessels. This is known as a vaso-occlusive crisis (VOC), which often is accompanied by swelling of hands, feet, arms, or legs.
It is very distressing for parents to see their child in pain and it is very important that the pain is relieved as fast as possible. To treat the pain in the best possible way, children must learn to communicate location and intensity of the pain. A pain scale from 1-10 can be helpful in assessing the level of pain.
Outlook for children with sickle cell anemia
The median life expectancy for sickle cell anemia patients is about 50 years, but may be longer when hydroxyurea is taken consistently. Hydroxyurea is a medicine that increases the level of a type of hemoglobin called hemoglobin F, which usually is only found at high levels during early stages of development. Hemoglobin F has a high affinity for oxygen and high levels of this protein may help prevent anemia.
Stem cell transplantation is so far the only cure for sickle cell anemia. It involves the replacement of the patient’s bone marrow with the bone marrow from a healthy donor.
The reduced flow of oxygen delays growth in children with sickle cell anemia and puberty in adolescents. It also can decrease physical endurance, but the child should be encouraged to stay active and to rest as needed.
Children with sickle cell anemia usually do not have learning difficulties, but may require some adaptations at school.
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