Sickle Cell Anemia in Children

Sickle cell anemia is a condition that primary afflicts those of African descent. There are variations of this condition which also affect those of Mediterranean, Asian and Hispanic descent. It is a condition in which the red blood cells, under adverse conditions, collapse and become crescent, or sickle shaped. This change in shape leads to an exacerbation of symptoms and the possible onset of serious complications. Sickle cell anemia, or sickle cell disease, is typically diagnosed in childhood and requires lifelong management. According to the Centers for Disease Control and Prevention (CDC), as many as 100,000 Americans have this condition.

Features

• In 1910, Dr. James B. Herrick was the first physician to document the characteristics of the red blood cells in a patient with sickle cell anemia. It was 38 years later, in 1948, that it was determined that the sickling of the red blood cells was caused by hemoglobin which had a protein abnormality. Hemoglobin is protein structure within red blood cells that carries the oxygen molecules. In sickle cell anemia, under certain conditions, the protein abnormality will cause the red blood cells to change shape upon the hemoglobin giving up the oxygen molecules. This is an inherited condition; both parents must be carriers of the sickle cell gene in order for a child to inherit it. The CDC reports there are an estimated 2 million Americans who are carriers of the sickle cell gene.

Diagnosis

• In cases where there is a high risk of sickle cell anemia, diagnosis can be made prior to birth by amniocentesis and chorionic villus sampling. Otherwise, the diagnosis can be determined by a simple blood test at birth. According to March of Dimes, all states have made testing for sickle cell disease a standard newborn test. The diagnostic blood test is called hemoglobin electrophoresis. Should the initial test return as positive, a second test is conducted for confirmation purposes.

Symptoms

• Sickle cell anemia may present with mild or severe symptoms. There is no way to predict the severity. The hallmark symptom is pain which is associated with the sickle-shaped cells causing blockage in blood vessels throughout the body. The pain syndrome may last a few hours to a few weeks and can be extremely severe in nature. Swelling in the hands and feet is a common phenomenon in children with sickle cell anemia and is also related to the blockage of blood vessels by the altered red blood cells. Red blood cells which have become sickle-shaped are fragile and die more quickly than normal red blood cells and hence, there are not enough circulating red blood cells to supply the body with oxygen. Anemia is decrease in circulating red blood cells; paleness, fatigue and shortness of breath are signs of anemia.

Complications

• There are many serious complications associated with the blockage of blood vessels by sickle-shaped red blood cells, including blindness, enlargement of the spleen and stroke. Those with sickle cell anemia are also at an increased risk for infections due to related splenic dysfunction. Acute chest syndrome is an associated lung condition in which either infection or blocked blood vessels cause chest pain and pneumonia-like symptoms. These complications can be particularly life-threatening in children if appropriate treatment is not sought immediately.

Treatment

• Management of sickle cell anemia tends to focus on controlling acute exacerbations of symptoms. Blood transfusions are a common part of sickle cell anemia management. Transfusions boost the number of normal, circulating red blood cells and, as a result, increase the amount of oxygen molecules in the blood. Mild pain can be treated with over the counter pain medications. However, in cases of severe pain, intravenous fluids and stronger pain medications may be required. Hydroxyurea is an anticancer drug used in sickle cell management appears to reduce the frequency of acute chest syndrome and pain episodes. A daily antibiotic regimen is often started in children up to age 5 in an effort to reduce the risk of potentially life-threatening infections. A small number of sickle cell anemia patients have undergone stem cell transplantation. According to the March of Dimes, 85 percent of transplantation patients have been considered to be cured of sickle cell anemia. There are few stem cell transplants performed due to the limited number of donors who are good genetic matches.

Prognosis

• The prognosis for children with sickle cell anemia was once very grim. About 25 years ago, the lifespan was about 20 years. With improved treatment and ongoing research, there are many persons with sickle cell anemia who are approaching middle age. The CDC reports current life expectancy to be between 42 and 48 years. This is significant improvement in a relatively brief period of time.