Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
Antonio Amato, Maria Pia Cappabianca, Donatella Ponzini, Silvana Rinaldi, Paola Di Biagio, Enrica Foglietta, Paola Grisanti, Fabrizio Mastropietro
Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. microcitemieroma@blod.info
Hemoglobin 2007A 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.
Citation
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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