Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant |
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| Authors: | Amato Antonio Cappabianca Maria Pia Ponzini Donatella Rinaldi Silvana Biagio Paola Di Foglietta Enrica Grisanti Paola Mastropietro Fabrizio |
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| Affiliation: | Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. microcitemieroma@blod.info |
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| 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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