Sickle Cell Anemia: DNA for Newborn Screening Follow-Up

摘要

The objective of the study was to demonstrate the applicability of DNA techniquesto newborn screening for sickle cell disease. The current practice in Texas is universal neonatal screening; small samples of blood are dried on filter paper and analyzed by protein electrophoresis. The primary aim of the project was to confirm or exclude the diagnosis of sickle cell disease by DNA genotyping directly from the original newborn screening filter paper. The purported advantages of the approach include earlier, more definitive notification of families with affected neonates.