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Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 1
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Original Article

Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]

Philippe JolyUnité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France
,
Philippe LacanUnité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France
,
Caroline GarciaUnité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, France
,
Aurélie DesbréeService de Pédiatrie, Hôpital Nord, Centre Hospitalier Universitaire, Saint-Etienne, France
,
Nicole CouprieLaboratoire Biomnis, Lyon, France
&
Alain FrancinaUnité de Pathologie Moléculaire du Globule Rouge, Hôpital Edouard Herriot, Lyon, FranceCorrespondence[email protected]
Pages 80-84 | Received 11 May 2012, Accepted 03 Sep 2012, Published online: 11 Dec 2012
 
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Abstract

We report two new variants of the δ-globin gene: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro] and Hb A2-Marseille [δ22(B4)Ala→Lys]. The first variant has a low rate of expression, the second results from a double nucleotide mutation on the same codon.

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