Article
The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia.
Blood cells, molecules & diseases - 1 Jan 2000
Papassotiriou Ioannis, Traeger-Synodinos Joanne, Marden Michael C, Kister Jean, Liapi Dimitra, Prome Danielle, Stamoulakatou Alexandra, Wajcman Henri, Kanavakis Emmanuel
Abstract excerpt
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...
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