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Hemoglobin shady grove: A novel fetal methemoglobin variant
Author(s) -
Marks Asher,
Luo Hongyuan,
Chui David H.K.,
Greenberg Jay
Publication year - 2013
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.24503
Subject(s) - medicine , pulse oximetry , methemoglobin , newborn screening , heart disease , pediatrics , fetus , hemoglobin , pregnancy , obstetrics , anesthesia , genetics , biology
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 SpO 2 . Pediatr Blood Cancer 2013;60E55‐E56. © 2013 Wiley Periodicals, Inc.