title: Neonatal cyanosis due to a new (G)γ-globin variant causing low oxygen affinity: Hb F-Sarajevo [(G)γ102(G4)Asn→Thr, AAC>ACC].
abstract: A baby girl, born at term, presented with severe cyanosis and received oxygen supplementation. Consecutive arterial blood gas analysis showed a pronounced right shift of the saturation curve, suggesting the presence of a hemoglobin (Hb) variant. A new (G)γ-globin variant was detected, namely HBG2:c.308G, which we have named Hb F-Sarajevo, the city from where the baby's parents originate. This A to C transversion exists in cis to the common (A)γ(T) and the resulting mutant Hb molecule exhibits very low oxygen affinity and cooperativity. Its analogue in the β-globin gene is Hb Kansas [β102(G4)Asn→Thr, AAC>ACC].
authors.affiliation: Clinic of Neonatology, Department of Pediatrics, Cantonal Hospital Winterthur, Winterthur, Switzerland.
authors.forename: Urs
authors.initials: U
authors.lastname: Zimmermann-Baer
authors.forename: Ralph
authors.initials: R
authors.lastname: Capalo
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Dutly
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Saller
authors.forename: Heinz
authors.initials: H
authors.lastname: Troxler
authors.forename: Malcolm
authors.initials: M
authors.lastname: Kohler
authors.forename: Hannes
authors.initials: H
authors.lastname: Frischknecht
mesh_terms: D001483:Base Sequence; D003490:Cyanosis / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D010100:Oxygen / Q000378:metabolism*; D017354:Point Mutation; D017386:Sequence Homology, Amino Acid; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055545:gamma-Globins; D005319:Fetal Hemoglobin; C017360:hemoglobin Kansas; D010100:Oxygen