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.
Journal: Hemoglobin
Published:
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.
Authors
Céline Renoux, Cécile Feray, Philippe Joly, Isabelle Zanella Cleon, Caroline Garcia, Philippe Lacan, Nicole Couprie, Alain Francina