title: Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.
abstract: We report a novel frameshift mutation in exon 3 of the β-globin gene, that, in the heterozygous state, leads to a β-thalassemia intermedia (β-TI) phenotype (marked anemia, splenomegaly, hyperbilirubinemia, jaundice, unbalanced synthesis of α/non-α chains in a 34-year-old Italian woman. This frameshift mutation, due to the deletion of the first nucleotide (-A) at codon 120, results in a β-globin chain that is elongated to 156 amino acid residues. These highly unstable abnormal chains precipitate in the erythroblasts as inclusion bodies, thus causing inefficient erythropoiesis and ultimately resulting in the observed dominant clinical phenotype.
authors.affiliation: Associazione Nazionale lotta contro Microcitemie in Italia (ANMI Onlus), Centro Studi Microcitemie, Roma, Italia. amato@microcitemie.191.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Amato
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Cappabianca
authors.forename: Maria
authors.initials: M
authors.lastname: Perri
authors.forename: Ivo
authors.initials: I
authors.lastname: Zaghis
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Mastropietro
authors.forename: Donatella
authors.initials: D
authors.lastname: Ponzini
authors.forename: Paola
authors.initials: P
authors.lastname: Di Biagio
authors.forename: Roberta
authors.initials: R
authors.lastname: Piscitelli
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003062:Codon; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; D055544:beta-Globins