A novel β-thalassemia intermedia phenotype containing Nt494+129T→C and NT494+132C→A mutations in cis and a Nt168C→T (βo 39 point) mutation in trans

A novel mediterranean “δβ-thalassemia” d

A novel mediterranean “δβ-thalassemia” determinant containing the δ+27 and β°39 point mutations in cis

✍ Lina Oggiano; Luciana Guiso; Laura Frogheri; Georgios Loudianos; Paola Pistidda; 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB 👁 1 views

The term Gp-thalassemla with normal HbF has been recently proposed to define heterogenous 6 and p globin gene molecular defects involving the same chromosome In cis. Here, we describe a Sardlnlan family In which three members showing mlcrocytosis, border-line HbA, levels and normal HbF proved to be