Two New ^Gγ Chain Variants: Hb F-Saint-Etienne [^Gγ79(EF3)Asp→His] and Hb F-Lyon [^Gγ97(FG4)His→Arg]

Philippe Joly Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France

Philippe Lacan Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France

Caroline Garcia Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France

Claire Berger Service de Pédiatrie, Hôpital Nord, Saint-Etienne, France

Christian Périer Laboratoire de Biochimie, Hôpital Nord, Saint-Etienne, France

Claire Barro Laboratoire d'Hématologie Biologique, Hôpital Michallon, Grenoble, France

Alain Francina Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, FranceCorrespondence[email protected]

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Abstract

Two new fetal hemoglobin (Hb F) variants affecting the ^Gγ chain are reported: Hb F-Saint-Etienne [^Gγ79(EF3)Asp→His] and Hb F-Lyon [^Gγ97(FG4)His→Arg]. These new Hb variants were found during a neonatal screening for hemoglobinopathies but characterized a few months later by our reference laboratory. The corresponding mutations are located on the external part of the Hb molecule and seem to be clinically silent.

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Two New ^Gγ Chain Variants: Hb F-Saint-Etienne [^Gγ79(EF3)Asp→His] and Hb F-Lyon [^Gγ97(FG4)His→Arg]

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Two New Gγ Chain Variants: Hb F-Saint-Etienne [Gγ79(EF3)Asp→His] and Hb F-Lyon [Gγ97(FG4)His→Arg]

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Two New ^Gγ Chain Variants: Hb F-Saint-Etienne [^Gγ79(EF3)Asp→His] and Hb F-Lyon [^Gγ97(FG4)His→Arg]