Sickle Cell Disease in Children

Sickle cell disease in children occurs when the child inherits the trait from both parents. If inherited from only one parent, the child will have sickle cell trait. It won't result in manifestation of the disease in the child, but it may cause problems later in life as the child grows up and has kids of his own. Modern technology, fortunately, offers a variety of options to improve quality of life for those dealing with sickle cell disease.

The Facts

• Sickle cell disease is a disorder where the body's red blood cells are shaped abnormally. Rather than healthy round red blood cells, the cells are sickle-shaped; obviously, that's the source of the name. This hereditary condition--present at birth if inherited--can cause serious infection, pain, anemia and organ damage. The severity of these side effects of the disease can vary depending on which type of sickle cell disease the child has. Some forms manifest as mild, while other children find themselves frequently hospitalized.

  Most sufferers of sickle cell anemia in the United States are African American; however, East Indian, Middle Eastern and Mediterranean people are also more inclined toward sickle cell disease than people of other ancestries.

  Newborns can be screened at birth through a simple blood test. This ability to diagnose and give early treatment allows most sickle cell sufferers to live reasonably normal and healthy lives.

Types

• There are different forms of sickle cell disease which are determined based on what genes the child inherits from his parents. Sickle cell anemia, also known as hemoglobin SS disease, occurs when each parent contributes a sickle cell gene. A child who inherits a sickle cell gene from a parent--along with a different type of abnormal gene from the other parent--may develop hemoglobin S beta thalassemia or hemoglobin SC disease. If only one parent contributes a sickle cell gene--while the other passes down a normal gene--the child will have sickle cell trait. This means the youngster will not suffer from the disease, but he may pass it on to his own children. If both parents have the trait, any offspring have a 25 percent chance of inheriting sickle cell disease. If one parent has the trait and the other has sickle cell disease, the odds of passing the disease on to their children go up to 50 percent.

Behavior of Sickle Cells

• Normally, the red blood cells carry oxygen in the hemoglobin; it's made up of alpha and beta chains. In the case of sickle cell disease, the child inherits two sickle cell genes for the hemoglobin beta chain. The sickle shape of the red blood cells causes them to get stuck in the blood vessels and block blood flow. Tissues don't get needed oxygen, and the child may experience pain due to the blockage. These C-shaped cells have a shorter life span at 10 to 20 days compared to the 120 days a healthy red blood cell lives. This fast turnover causes anemia (low red blood cell count) in the child.

Complications

• The type of sickle cell disease the child has inherited determines possible complications and their severity. The most common problem kids with sickle cell disease contend with is anemia. One possible problem is Aplastic crisis, where the bone marrow slows production of red blood cells leading to severe anemia. Other problems include acute chest syndrome, stroke due to blood vessel blockage and swelling of the feet and hands known as dactylitis. Sickle cell disease can also contribute to generalized pain, joint damage, gallstones, eye damage, kidney damage, leg ulcers and delayed growth in the child.

Treatment

• There is only one cure for sickle cell disease; that's a bone marrow transplant. Of course, this is risky and complicated and typically only recommended for children having serious complications. The chance of rejection--even from a "low risk" matched donor--is ever present.

  Most kids with sickle cell disease are treated using other methods that do not cure the disease, but they improve quality of life with sickle cell disease. Penicillin is used to ward off possible infections, and pain medications are administered if chronic pain is an issue. Red blood cell production is stimulated with supplements of folic acid. Regular blood transfusions may be offered to children who experience more severe complications. More medications and treatments are being researched.

Emergency Medical Symptoms

• Any one of the following symptoms in a child with sickle cell disease calls for an immediate visit to the emergency room: chest pain, breathing trouble, fatigue, fever over 100 degrees Fahrenheit, dizziness, headache, stomach pain, stomach swelling, jaundice, severe paleness, change in vision, seizures, weakness, partial paralysis, numbness, slurred speech or unconsciousness.