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Open AccessCommunication

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

by Lisa M. Shook 1,2,3,*, Deidra Haygood 1,2 and Charles T. Quinn 1,2,3,4
1
Ohio Department of Health Regional Sickle Cell Services Program–Region 1, Cincinnati, OH 45229, USA
2
Cincinnati Comprehensive Sickle Cell Center, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
3
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA
4
Erythrocyte Diagnostic Laboratory, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(1), 7; https://doi.org/10.3390/ijns6010007
Received: 14 October 2019 / Revised: 15 January 2020 / Accepted: 28 January 2020 / Published: 31 January 2020
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.
Keywords: genetic testing; sickle cell trait; sickle cell disease; sickle-β+-thalassemia; newborn screening for hemoglobinopathies genetic testing; sickle cell trait; sickle cell disease; sickle-β+-thalassemia; newborn screening for hemoglobinopathies
MDPI and ACS Style

Shook, L.M.; Haygood, D.; Quinn, C.T. Clinical Utility of Confirmatory Genetic Testing to Differentiate Sickle Cell Trait from Sickle-β+-Thalassemia by Newborn Screening. Int. J. Neonatal Screen. 2020, 6, 7.

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