title: Neonatal cyanosis due to a novel fetal hemoglobin: Hb F-Circleville [Ggamma63(E7)His-->Leu, CAT>CTT].
abstract: Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.
authors.affiliation: Department of Medicine, Medical College of Georgia, Augusta, GA 30912, USA.
authors.forename: Erin
authors.initials: E
authors.lastname: Dainer
authors.forename: Richard
authors.initials: R
authors.lastname: Shell
authors.forename: Randy
authors.initials: R
authors.lastname: Miller
authors.forename: Joan F
authors.initials: JF
authors.lastname: Atkin
authors.forename: Matt
authors.initials: M
authors.lastname: Pastore
authors.forename: Abdullah
authors.initials: A
authors.lastname: Kutlar
authors.forename: Lina
authors.initials: L
authors.lastname: Zhuang
authors.forename: Leslie
authors.initials: L
authors.lastname: Holley
authors.forename: Debra H
authors.initials: DH
authors.lastname: Davis
authors.forename: Ferdane
authors.initials: F
authors.lastname: Kutlar
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003490:Cyanosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal; D006639:Histidine / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000737:chemistry / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D006639:Histidine; D005914:Globins; D005319:Fetal Hemoglobin; D007930:Leucine