Τίτλος:
The homozygous state for Hb Crete [beta 129 (H7) Ala -> Pro] is
associated with a complex phenotype including erythrocytosis and
functional anemia
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Hb Crete, an electrophoretically neutral, unstable, high oxygen affinity
variant, was characterized by protein and DNA analyses in the homozygous
state in a 32-year-old woman from Crete, with erythrocytosis and
microcytosis. The proband and members of her family over 3 generations,
including 5 carriers of Hb Crete, were subject to clinical,
hematological and biochemical investigations, and DNA, RNA and protein
studies were carried out. The proband demonstrated features associated
with disturbed hemoglobin (Hb) structure and function, including
erythrocytosis and additionally a state of functional anemia, the latter
reflected by increased erythropoetin levels and cardiac output. In
addition, all the carriers surprisingly had hematological and
biosynthetic findings more usually associated with thalassemia trait.
The structural change in Hb Crete only partly explains all the
pathological manifestations of this variant, and other mechanisms are
discussed. (c) 2005 Elsevier Inc. All rights reserved.
Συγγραφείς:
Papassotiriou, I
Traeger-Synodinos, J
Marden, MC
Kister, J
and Liapi, D
Prome, D
Stamoulakatou, A
Wajcman, H and
Kanavakis, E
Περιοδικό:
BLOOD CELLS MOLECULES AND DISEASES
Εκδότης:
ACADEMIC PRESS INC ELSEVIER SCIENCE
Λέξεις-κλειδιά:
hemoglobin variants; secondary erythrocytosis; “functional” anemia
DOI:
10.1016/j.bcmd.2004.12.006
