title: The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia.
abstract: 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.
authors.affiliation: Department of Clinical Biochemistry, Aghia Sophia Children's Hospital, 115 27 Athens, Greece. biochem@paidon-agiasofia.gr
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: Michael C
authors.initials: MC
authors.lastname: Marden
authors.forename: Jean
authors.initials: J
authors.lastname: Kister
authors.forename: Dimitra
authors.initials: D
authors.lastname: Liapi
authors.forename: Danielle
authors.initials: D
authors.lastname: Prome
authors.forename: Alexandra
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
mesh_terms: D000328:Adult; D000740:Anemia / Q000235:genetics*; D002248:Carbon Monoxide / Q000378:metabolism; D002302:Cardiac Output; D004921:Erythropoietin / Q000097:blood; D005192:Family Health; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D007700:Kinetics; D010375:Pedigree; D010641:Phenotype; D011086:Polycythemia / Q000235:genetics*; D013789:Thalassemia
chemical_list: D006455:Hemoglobins, Abnormal; C500301:hemoglobin Crete; D004921:Erythropoietin; D002248:Carbon Monoxide