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

Abstract

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

• β-Globin
• double tandem base substitution
• gene conversion
• variants

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.