Sickle Cell

Sickle Cell Disease (SCD)
A Hemoglobinopathy Disorder

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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 usually 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 on average, sickle cell disease affects one of every 1,300 infants in the general population and approximately one of every 400 of African descent. It is seemingly more common in individuals of African and Mediterranean ancestry, however, it is not limited to these groups. Ancestor groups should not be a reason to avoid screening for this disorder. It can be found in children of all backgrounds.

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.

History

Screening
Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter the state of your residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

Support Groups

Sickle Cell Foundation of Georgia
2391 Benjamin E. Mays Dr. SW
Atlanta, Georgia 30311-3291
Phone: (404) 755-1641
Fax: (404) 755-7955
Email: Write to Sickle Cell Fdn of GA

MUMS - National Parent-to-Parent Network

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Revised 01/07/2007