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Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGTGAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGCGAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGAGAA]

Authors :
Jialing, Cui
Christoph, Baysdorfer
Mahin, Azimi
Elliott P, Vichinsky
Carolyn C, Hoppe
Source :
Hemoglobin. 36(3)
Publication Year :
2012

Abstract

Three new γ-globin chain mutations were identified in four newborn samples referred to the Hemoglobinopathy Reference Laboratory at the Children's HospitalResearch 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, GGTGAT], Hb F-Chori-I [(A)γ(T)16(A13)Gly→Asp, GGCGAC] and Hb F-Chori-II [(A)γ(I)29(B11)Gly→Glu, GGAGAA], respectively. No functional studies could be performed.

Details

ISSN :
1532432X
Volume :
36
Issue :
3
Database :
OpenAIRE
Journal :
Hemoglobin
Accession number :
edsair.pmid..........46040ed1c047deac0028cb9cf9003ec9