TY - JOUR
TI - Observation of a rare hemoglobin variant [Hb Lulu Island,beta
107(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
AU - Papassotiriou, Ioannis
AU - Stamoulakatou, Alexandra
AU - Wajcman, Henri
AU - and Kister, Jean
AU - Dimisianos, Gerasimos
AU - Lazaropoulou, Christina
AU - and Kanavaki, Ino
AU - Vavourakis, Efstathios
AU - Kattamis, Antonios and
AU - Kanavakis, Emmanuel
AU - Traeger-Synodinos, Joanne
JO - Hemoglobin:  Interrnational Journal for Hemoglobin Research
PY - 2006
VL - 30
TODO - 4
SP - 409-418
PB - TAYLOR & FRANCIS LTD LONDON
SN - 0363-0269
TODO - 10.1080/03630260600867842
TODO - unstable hemoglobins (Hbs); thalassemia (thal); erythropoiesis
TODO - 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 beta 107(G9) Gly -> Asp.
ER -