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

ABSTRACT: 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 trait and (2) a qualitative study to determine the related educational needs of primary care providers (PCPs). During a two-year period, we attempted to perform alpha-globin genetic testing for all newborns with an abnormal NBS result (an "FA + Barts" pattern). We conducted semi-structured interviews with seven PCPs for thematic abstraction. In sixty neonates with presumed Hb Barts on

SUBMITTER: Shook LM 

PROVIDER: S-EPMC11843879 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature