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.
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.
Papassotiriou
Ioannis
I
Department of Clinical Biochemistry, Aghia Sophia Children's Hospital, Athens, Greece. biochem@paidon-agiasofia.gr
Stamoulakatou
Alexandra
A
Wajcman
Henri
H
Kister
Jean
J
Dimisianos
Gerasimos
G
Lazaropoulou
Christina
C
Kanavaki
Ino
I
Vavourakis
Efstathios
E
Kattamis
Antonios
A
Kanavakis
Emmanuel
E
Traeger-Synodinos
Joanne
J
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*
D005914:Globins