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Genetic testing helps avoid false hemoglobinopathy diagnoses in newborns

Key clinical point: Confirmatory genetic testing may be useful in the diagnosis of hemoglobinopathies for newborns with an abnormal hemoglobin (Hb) pattern.

Major finding: Genetic testing established the correct diagnosis of HbAS (sickle cell trait) in newborns who previously underwent protein-based confirmatory screening.

Study details: A retrospective cohort study of 31 newborns with an Hb FSA pattern.

Disclosures: The study was funded by the National Institutes of Health and the Ohio Department of Health. The authors reported having no conflicts of interest.


Shook LM et al. Int J Neonatal Screen. 2020 Jan 31. doi: 10.3390/ijns6010007.