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 β 0 -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 ( A AG→ T AG)] (the proband and his father) showed the hematological picture of a β 0 -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).
- (AT) T Motif
- -158 (C→T) γ Polymorphism
- Nonsense mutation at codon 59
- Polymorphic hypersensitive 2 (HS-2) site
ASJC Scopus subject areas