9 Birth Defects and Their Symptoms and Treatments

Sickle-Cell Disease

Biochemical Birth Defects

Sometimes certain substances essential to a baby's proper body functioning are either abnormal or completely absent. Without intervention, deficiencies like the following can be devastating (and often even fatal) because they affect many bodily systems.

Sickle-Cell Disease

Prevalence: Sickle-cell disease occurs in around 1 in 625 births, mostly affecting African-Americans and Hispanics of Caribbean ancestry.

Detection: Because of its prevalence, 30 states require that newborns be given the blood test that detects the disorder.

Symptoms: 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 like bananas or sickles (hence the name).

These misformed cells then become trapped in and destroyed by the liver and spleen, resulting in anemia. In severe cases, an affected child may be pale, have shortness of breath, and tire easily. The 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. Two weapons against this risk are immunization (the usual vaccines, as well as pneumonia and flu shots) and daily preventative penicillin treatments.

Treatment: Although the 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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