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].

2012
https://researcherprofiles.org/profile/1161334
22384921
Cui J, Baysdorfer C, Azimi M, Vichinsky EP, Hoppe CC
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.

Journal Issue
Volume 36 of Issue 3