Newborn Metabolic Screening Program
Sickle Cell Disease (SCD)
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.
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.
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
Untreated newborns often develop septicemia, an infection of
the blood, and die within a few weeks of birth.
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.
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.