Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Papassotiriou, Ioannis
Stamoulakatou, Alexandra
Wajcman, Henri
and Kister, Jean
Dimisianos, Gerasimos
Lazaropoulou, Christina
and Kanavaki, Ino
Vavourakis, Efstathios
Kattamis, Antonios and
Kanavakis, Emmanuel
Traeger-Synodinos, Joanne
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
TAYLOR & FRANCIS LTD LONDON
Λέξεις-κλειδιά:
unstable hemoglobins (Hbs); thalassemia (thal); erythropoiesis
DOI:
10.1080/03630260600867842
