A New Hemoglobin Variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a Double Base Mutation at the Same Codon. (February 2015)

• Record Type: Journal Article
• Authors: Renoux, Céline; Feray, Cécile; Joly, Philippe; Zanella-Cleon, Isabelle; Garcia, Caroline; Lacan, Philippe; Couprie, Nicole; Francina, Alain
• Is Part Of: Hemoglobin. Volume 39:Number 1(2015)
• Page Start: 46
• Page End: 48
• Publication Date: 2015-02
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.3109/03630269.2014.982760
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>We report a new β-globin chain variant: Hb Meylan [β73(E17)Asp → Phe; <italic>HBB</italic>: c.220G&gt;T; c.221A&gt;T]. The new variant results from a double nucleotide mutation at the same codon. The possible molecular mechanisms are discussed.</p> </abstract>