Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait

Hemoglobinopathies are commonly detected by newborn screening (NBS). One of the most difficult to accurately diagnose is alpha-thalassemia, which is indicated by the presence of hemoglobin (Hb) Barts on NBS. This mixed methods study incorporated (1) an implementation and quality improvement project...

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Bibliographic Details
Main Authors: Lisa M. Shook, Deidra Haygood, Charles T. Quinn
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:International Journal of Neonatal Screening
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Online Access:https://www.mdpi.com/2409-515X/11/1/12
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