title: Hb F-Porto Torres [Agamma75(E19)Ile-->Thr, 136(H14)Ala-->Ser]: a novel variant of the Agamma chain having two substitutions, one being that of Hb F-Sardinia.
abstract: The abnormal Hb F-Porto Torres [Agamma75(E19)Ile-->Thr, 136(H14)Ala-->Ser] was observed during a cord blood survey for hemoglobinopathies in North Sardinia. This silent variant showed the same mobility as Hb F-Sardinia in isoelectric focusing (IEF) of the tetramers, whereas the abnormal globin chain was clearly separated by acid-urea-Triton polyacrylamide gel electrophoresis (AUT-PAGE) from the normal Ggamma- and Agamma-globin chains. Separation of the globin chains by reversed phase high performance liquid chromatography (HPLC) indicated the following percentages: Ggamma 68.4, Agamma 14.0, Xgamma 17.6, that strongly suggested the abnormal chain as being a variant of the Agamma-globin. Sequencing of the gamma-globin genes indicated that the mutated gene was in fact an Agamma with two nucleotide replacements, one being the ATA-->ACA (Ile-->Thr) at codon 75 (the so-called AgammaT of the rather common Hb F-Sardinia) and the second the GCA-->TCA (Ala-->Ser) at codon 136. This new variant is the seventh having the sequence of the AgammaT chain with an additional mutation so far described and the third characterized by gene sequencing.
authors.affiliation: Dipartimento di Scienze Fisiologiche, Biochimiche e Cellulari, e Centro Interdisciplinare per lo Sviluppo della Ricerca Biotecnologia e per lo Studio della Biodiversità della Sardegna e dell'Area Mediterranea, Università degli Studi di Sassari, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Pirastru
authors.forename: Laura
authors.initials: L
authors.lastname: Manca
authors.forename: Marcella Palici
authors.initials: MP
authors.lastname: di Suni
authors.forename: Silvia Maria
authors.initials: SM
authors.lastname: Speziga
authors.forename: Bruno
authors.initials: B
authors.lastname: Masala
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005319:Fetal Hemoglobin / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D017354:Point Mutation / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C500300:hemoglobin F-Porto Torres; C040337:hemoglobin F Sardinia; D005914:Globins; D005319:Fetal Hemoglobin