Detection of a Rare β-Globin Nonsense Mutation [Codon 59 (AAG→TAG)] in an Italian Family

Abstract

In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a β⁰-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two β-thal carriers of the β-globin nonsense mutation [codon 59 (AAG→TAG)] (the proband and his father) showed the hematological picture of a β⁰-thal trait: the only hematological difference between the two β-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).

Keywords:

• Nonsense mutation at codon 59
• −158 (C→T) ^Gγ Polymorphism
• (AT)_XT_Y Motif
• Polymorphic hypersensitive 2 (HS-2) site