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]

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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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)]

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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)]

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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)]