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  • Title: Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
    Author: Amato A, Cappabianca MP, Ponzini D, Rinaldi S, Biagio PD, Foglietta E, Grisanti P, Mastropietro F.
    Journal: Hemoglobin; 2007; 31(3):375-8. PubMed ID: 17654075.
    Abstract:
    A new beta-globin variant at codon 106 (CTG-->GTG), and which we named Hb L'Aquila [beta106(G8)Leu-->Val], was detected by DNA analysis. The proband and her father presented with the features of a mild beta(+)-thalassemia (thal), confirmed by their alpha/beta-globin chain biosynthesis ratios.
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