A New ^Gγ Chain Variant: Hb F-Bron [γ20(B2)Val→Ala]

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

Nelly Burnichon Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France

Michel Becchi Institut de Biologie et Chimie des Protéines (CNRS-UMR 5086), Lyon, France

Isabelle Zanella-Cleon Institut de Biologie et Chimie des Protéines (CNRS-UMR 5086), Lyon, France

Martine Aubry Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France

Nicole Couprie Laboratoire Marcel Mérieux, Lyon, France

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

show all

Abstract

A new ^Gγ hemoglobin (Hb) variant, Hb F-Bron [γ20(B2)Val→Ala] on the first exon of the ^Gγ-globin gene is described. The variant was characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities included hypochromia and microcytosis and were probably caused by an interaction with an α-thalassemia (thal) (3.7 kb) deletion in the heterozygous state.

Keywords

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

A New ^Gγ Chain Variant: Hb F-Bron [γ20(B2)Val→Ala]

Information for

Open access

Opportunities

Help and information

A New Gγ Chain Variant: Hb F-Bron [γ20(B2)Val→Ala]

Abstract

Reprints and Corporate Permissions

Academic Permissions

Related research

To cite this article:

Download citation

Information for

Open access

Opportunities

Help and information

Keep up to date

Your download is now in progress and you may close this window

Login or register to access this feature

A New ^Gγ Chain Variant: Hb F-Bron [γ20(B2)Val→Ala]