title: Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C]: A New Hemoglobin Variant Observed In A Healthy Newborn.
abstract: Here we describe Hb F-Avellino [(G)γ41(C7)Phe → Leu; HBG2: c.124 T > C], a new hemoglobin (Hb) variant observed in a healthy newborn. The proband's hemolysate was found to be mildly unstable by the isopropanol test. The occurrence of the variant was assessed by both chromatographic and electrophoretic methods. DNA sequencing analysis of the (G)γ gene showed a T to C transition at codon 41 (TTC > CTC) corresponding to the Phe → Leu substitution. Normal functional properties have been hypothesized.
authors.affiliation: a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
authors.forename: Monica
authors.initials: M
authors.lastname: Pirastru
authors.affiliation: a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
authors.forename: Paolo
authors.initials: P
authors.lastname: Mereu
authors.affiliation: a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
authors.forename: Sandro
authors.initials: S
authors.lastname: Trova
authors.affiliation: a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
authors.forename: Bruno
authors.initials: B
authors.lastname: Masala
authors.affiliation: a Dipartimento di Scienze Biomediche, Università di Sassari , Sassari , Italia.
authors.forename: Laura
authors.initials: L
authors.lastname: Manca
mesh_terms: D019943:Amino Acid Substitution; D003062:Codon; D005319:Fetal Hemoglobin / Q000235:genetics*; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D055545:gamma-Globins; D005319:Fetal Hemoglobin
keywords: Gγ-globin gene; Hb F-Avellino; Hemoglobin (Hb) variant; Phe41(C7) residue