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)]. (February 2013)

• Record Type: Journal Article
• Authors: Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Desbrée, Aurélie; Couprie, Nicole; Francina, Alain
• Is Part Of: Hemoglobin. Volume 37:Number 1(2013)
• Page Start: 80
• Page End: 84
• Publication Date: 2013-02
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2012.749275
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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.</p> </abstract>