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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.


Antonio Amato, Maria Pia Cappabianca, Donatella Ponzini, Silvana Rinaldi, Paola Di Biagio, Enrica Foglietta, Paola Grisanti, Fabrizio Mastropietro. Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant. Hemoglobin. 2007;31(3):375-8

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PMID: 17654075

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