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Hemoglobin shady grove: A novel fetal...
Journal article

Hemoglobin shady grove: A novel fetal methemoglobin variant

Abstract

Recommendations by the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children aim to increase congenital heart disease screening by pulse oximetry in the nursery. Here, we describe a novel fetal methemoglobin variant discovered in a newborn found to have oxygen saturations significantly below normal upon pulse oximetry screening for congenital heart disease. As universal newborn screening with pulse oximetry is implemented, hereditary variant hemoglobins should be considered in the diagnostic work-up in otherwise well newborns with low SpO2 .

Authors

Marks A; Luo H; Chui DHK; Greenberg J

Journal

Pediatric Blood & Cancer, Vol. 60, No. 8, pp. e55–e56

Publisher

Wiley

Publication Date

August 1, 2013

DOI

10.1002/pbc.24503

ISSN

1545-5009

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