Newborn Screening for Metabolic and Sickle Cell Disorders Program
Sickle Cell Diseases
Brief Description
These groups of autosomal recessive disorders result from the synthesis of abnormal hemoglobin molecules. Several common sickle cell syndromes exist with similar clinical manifestations and some differences.
Prevalence
(GA) About 1 in a 1000 live births
Analyte/Lab Method
Hemoglobin fractions by isoelectric focusing (IEF), HPLC, and citrate agar electrophoresis
Abnormal Result(s) Suggesting Sickle Cell Disease
FS, FSC, FSA, FSE
Feeding Effect
none
Timing Effect
none
Causes of False Positives/Negatives
Biologic variation in beta globin synthesis at birth, transfusions.
Treatment
Prophylactic penicillin throughout childhood, prompt treatment of fever, periodic health care, pain treatment, transfusion for aplastic crisis and splenic sequestration.
Symptoms
Symptoms include moderate to severe hemolytic anemia, increased severity of certain infections, hand-foot syndrome, splenic sequestration, tissue infarction with organ damage and failure, and recurrent pain episodes.
Comments
Consultation with a sickle cell center is encouraged.
Follow-up Program/Treatment Center
Newborn Screening Unit
Georgia Department of Public Health
NBS Program Coordinator: (404) 463-0815
Grady Health System
On-Call MD: (404) 616-3572
Additional Resources
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