title: 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: Department of Hematology/Oncology, Children's National Medical Center, Michigan Ave, Washington, District of Columbia 20010, USA. amarks@cnmc.org
authors: Asher
authors: A
authors: Marks
authors: Hong-yuan
authors: HY
authors: Luo
authors: David H K
authors: DH
authors: Chui
authors: Jay
authors: J
authors: Greenberg
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008706:Methemoglobin / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D010092:Oximetry
chemical_list: C553565:methemoglobin F; D008706:Methemoglobin; D005319:Fetal Hemoglobin