title: Observation of a rare hemoglobin variant [Hb Lulu island, beta107(G9)Gly-->Asp, GGC-->GAC] co-inherited with a beta+-thalassemia mutation [IVS-I-110 (G-->A)] or in the heterozygous state in a Greek-Albanian family.
abstract: We report clinical, hematological, biochemical, functional and molecular studies carried out on two first cousins from a Greek-Albanian family who have clinical and hematological findings consistent with the diagnosis of thalassemia intermedia. DNA studies determined that they had co-inherited a common Mediterranean beta-thalassemia (thal) mutation, IVS-I-110 (G-->A), in trans to a beta-globin gene mutation at codon 107 (GGC-->GAC), predicted to give rise to a rare unstable beta chain variant Hb Lulu Island or beta107(G9)Gly-->Asp.
authors.affiliation: Department of Clinical Biochemistry, Aghia Sophia Children's Hospital, Athens, Greece. biochem@paidon-agiasofia.gr
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Alexandra
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Jean
authors.initials: J
authors.lastname: Kister
authors.forename: Gerasimos
authors.initials: G
authors.lastname: Dimisianos
authors.forename: Christina
authors.initials: C
authors.lastname: Lazaropoulou
authors.forename: Ino
authors.initials: I
authors.lastname: Kanavaki
authors.forename: Efstathios
authors.initials: E
authors.lastname: Vavourakis
authors.forename: Antonios
authors.initials: A
authors.lastname: Kattamis
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
mesh_terms: D000328:Adult; D000415:Albania; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004920:Erythropoiesis / Q000502:physiology*; D005260:Female; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006115:Greece; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D018384:Oxidative Stress / Q000502:physiology; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D005914:Globins