Biochemical Birth Defects

Sickle Cell Disease

Sickle cell disease occurs in around one in 625 births and affects primarily African-Americans and Hispanics of Caribbean ancestry. Because of its prevalence, 30 states require that newborns be given the blood test that detects the disorder.

The disease can cause debilitating bouts of pain and damage to vital organs and can sometimes be fatal. Sickle cell disease affects the hemoglobin (a protein inside the red blood cells) in such a way that the cells become distorted -- instead of their normal, round shape, they look more like bananas or sickles. These misformed cells then become trapped in and destroyed by the liver and spleen, resulting in anemia.

Symptoms: In severe cases, a child affected with sickle cell disease may be pale, have shortness of breath, and tire easily. Episodes of pain, called crises, happen when the cells become stuck, blocking tiny blood vessels and cutting off the oxygen supply to various parts of the child's body. Another complication of sickle cell disease, noticeable mostly in infants and young children, is vulnerability to severe bacterial infections.

Treatment: Two weapons against bacterial infections are immunization (the usual vaccines, as well as pneumonia and flu shots) and daily preventive penicillin treatments. Although sickle cell disease can't be cured, a number of new therapies that reduce the severity and frequency of crises are being studied.

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