Περίληψη:
Hb Sitia [beta 128(H6)Ala –> Val] was found in a Greek female with
slightly reduced red blood cell indices. The abnormal hemoglobin was
indistinguishable from Wb A by electrophoresis but eluted after Hb A on
cation exchange high performance liquid chromatography. DNA sequence
analysis revealed a GCT –> GTT mutation at codon 128, which is
predicted to encode an Ala –> Val substitution. This was confirmed by
mass spectrometry analyses of the beta -globin chain. Since alanine at
beta 128(H6) interacts with several amino acids of the alpha1 beta1
contact, its replacement by a larger residue results in a mild
instability of the molecule and slight modifications of the oxygen
binding properties.
Συγγραφείς:
Papassotiriou, I
Traeger-Synodinos, J
Prome, D
Kister, J and
Vrettou, C
Xaidara, A
Marden, M
Stamoulakatou, A and
Wajcman, H
Kanavakis, E
