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Hemoglobin
international journal for hemoglobin research
Volume 32, 2008 - Issue 5
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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]

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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Pages 491-497 | Received 03 Dec 2007, Accepted 10 Jan 2008, Published online: 07 Jul 2009
 
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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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