title: Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant.
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.
authors.affiliation: Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. microcitemieroma@blod.info
authors.forename: Antonio
authors.initials: A
authors.lastname: Amato
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Cappabianca
authors.forename: Donatella
authors.initials: D
authors.lastname: Ponzini
authors.forename: Silvana
authors.initials: S
authors.lastname: Rinaldi
authors.forename: Paola Di
authors.initials: PD
authors.lastname: Biagio
authors.forename: Enrica
authors.initials: E
authors.lastname: Foglietta
authors.forename: Paola
authors.initials: P
authors.lastname: Grisanti
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Mastropietro
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D017354:Point Mutation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C523162:hemoglobin L'Aquila; D005914:Globins