Τίτλος:
Association of unstable hemoglobin variants and heterozygous
beta-thalassemia: Example of a new variant Hb Acharnes or [beta 53(D4)
Ala -> Thr]
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
We report here the functional and structural characterization of Hb
Acharnes [beta 53(D4) Ala –> Thr], an unstable and
electrophoretically silent variant, that was found associated in trans
with a beta(0)-thalassemic mutation (IVSI-1 G –> A), in a patient with
thalassemia intermedia syndrome. This case is discussed in comparison
with other sporadic cases that we have previously investigated,
resulting from the co-inheritance of a beta(0)-thalassemic mutation
(CD39 C –> T) with two other types of unstable hemoglobins, Hb Koln
[beta 98(FG5) Val –> Met], and Hb Arta [beta 45(CD4) Phe –> Cys].
it may be concluded that, in these associated forms, both the degree of
instability of the variant and the altered oxygen binding properties
(affecting the degree of tissue hypoxia) are major determinants of their
clinical expression. (C) 1999 Wiley-Liss, Inc.
Συγγραφείς:
Papassotiriou, I
Traeger-Synodinos, J
Prome, D
Kister, J and
Stamou, E
Liakopoulou, T
Stamoulakatou, A
Kanavakis, E and
Wajcman, H
Περιοδικό:
American Journal of Hematology
Λέξεις-κλειδιά:
Hb variant; thalassemia intermedia; oxygen binding; unstable hemoglobin
DOI:
10.1002/(SICI)1096-8652(199911)62:3<186::AID-AJH9>3.3.CO;2-Q
