title: Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGA>GAA].
abstract: Three new γ-globin chain mutations were identified in four newborn samples referred to the Hemoglobinopathy Reference Laboratory at the Children's Hospital & Research Center Oakland, Oakland, CA, USA, for diagnostic testing. The variants were characterized by sequencing of amplified γ-globin genes. These three novel variants have been named Hb F-Hayward [(G)γ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [(A)γ(T)16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [(A)γ(I)29(B11)Gly→Glu, GGA>GAA], respectively. No functional studies could be performed.
authors.affiliation: Hemoglobinopathy Reference Laboratory, Children's Hospital & Research Center Oakland, 747 52nd Street, Oakland, CA 94609, USA.
authors.forename: Jialing
authors.initials: J
authors.lastname: Cui
authors.forename: Christoph
authors.initials: C
authors.lastname: Baysdorfer
authors.forename: Mahin
authors.initials: M
authors.lastname: Azimi
authors.forename: Elliott P
authors.initials: EP
authors.lastname: Vichinsky
authors.forename: Carolyn C
authors.initials: CC
authors.lastname: Hoppe
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055545:gamma-Globins; C575432:hemoglobin F Chori-I; C575433:hemoglobin F Chori-II; C575431:hemoglobin F Hayward; D005319:Fetal Hemoglobin