A Mutation of the β-Globin Gene Initiation Codon, ATG→AAG, Found in a French Caucasian Man

Abstract

A new mutation of the β-globin gene initiation codon, ATG→AAG (Met→Tyr), is reported in a man originating from the southeast of France. Typical hematological findings of a β-thalassemia (thal) trait were found. We emphasize the importance of characterizing uncommon β-thal mutations for genetic counseling.

• Thalassemia (thal)
• β-Globin gene
• Initiation codon