title: Detection of a rare beta-globin nonsense mutation [codon 59 (AAG-->TAG)] in an Italian family.
abstract: In this study we report on the hematological and molecular findings of a family from Central Italy, whose 33-year-old male proband presented with a beta0-thalassemia (thal) trait associated to a relevant Hb F level. The proband and his family (parents and a sister) were investigated by hematological analysis. The two beta-thal carriers of the beta-globin nonsense mutation [codon 59 (AAG-->TAG)] (the proband and his father) showed the hematological picture of a beta0-thal trait: the only hematological difference between the two beta-thal carriers was in the Hb F level (3.3% in the proband and 1% in his father).
authors.affiliation: Associazione Nazionale Microcitemie Italia (ANMI ONLUS), Centro Studi Microcitemie di Roma, Roma, Italia. ibianco@tin.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Amato
authors.forename: Maria
authors.initials: M
authors.lastname: Pia Cappabianca
authors.forename: Donatella
authors.initials: D
authors.lastname: Ponzini
authors.forename: Paola
authors.initials: P
authors.lastname: Di Biagio
authors.forename: Alessia
authors.initials: A
authors.lastname: Colosimo
authors.forename: Valentina
authors.initials: V
authors.lastname: Guida
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Mastropietro
authors.forename: Enrica
authors.initials: E
authors.lastname: Foglietta
authors.forename: Paola
authors.initials: P
authors.lastname: Grisanti
authors.forename: Silvana
authors.initials: S
authors.lastname: Rinaldi
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Ida
authors.initials: I
authors.lastname: Bianco
mesh_terms: D000328:Adult; D000368:Aged; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA / Q000379:methods; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D005914:Globins; D005319:Fetal Hemoglobin