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

7 Feb 2025

Abstract excerpt

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 to demonstrate the clinical utility of genetic testing added to standard procedures for likely alpha-thalassemia...

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PMID: 39982346
DOI: 10.3390/ijns11010012

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