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Newborn Metabolic Screening Program

Sickle Cell Disease (SCD)

A Hemoglobinopathy Disorder:


What is it?

Sickle Cell Disease (SCD) is caused by the malfunction of the red blood cells in affected individuals causing a very severe form of anemia.

Inheritance and Frequency
The gene defect for sickle cell disease is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect.

It is estimated that 1 of every 400 African American children are affected by Sickle Cell disease. While it seems to be more common in individuals of African and Mediterranean ancestry, it can be found in any ethnic group. Ancestor groups should not be a reason to avoid screening for this disorder. Because it can be found in children of all backgrounds, universal screening is recommended.

Signs & Symptoms
Untreated newborns often develop septicemia, an infection of the blood, and die within a few weeks of birth.

Long Term Effects
There is an extremely high mortality for sufferers under the age of five, although, better treatments are becoming available to help cope with this disease.

Treatment
Even though there is no cure for sickle cell disease, it is treated by taking folic acid and penicillin throughout the life of an affected individual.