Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-β+-Thalassemia by Newborn Screening

Abstract

by Lisa M. Shook,Deidra Haygood andCharles T. Quinn
Int. J. Neonatal Screen. 2020, 6(1), 7; https://doi.org/10.3390/ijns6010007 - 17 july 2022
Cited by 1 | Viewed by 3573
Abstract
Hemoglobin separation techniques are the most commonly used laboratory methods in newborn screening and confirmatory testing programs for hemoglobinopathies. However, such protein-based testing cannot accurately detect several hemoglobinopathies in newborns, especially when β-thalassemia mutations are involved. Here, we describe a consecutive cohort of newborns who were identified by newborn screening to have a likely diagnosis of sickle-β+-thalassemia (having an “FSA” pattern) who were determined to have sickle cell traits by confirmatory and genetic testing. We illustrate the clinical utility of genetic testing to make a correct and timely diagnosis in the setting of newborn screening for hemoglobinopathies. Full article
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14 pages, 1478 KiB
Open AccessArticle