title: Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [beta20(B2)Val-->Met] with beta- and alpha-thalassemia mutations: first case in the literature.
abstract: A 40-year-old Greek male was admitted to the hospital because of acute respiratory infection. The patient has been undergoing regular venesection for erythrocytosis for 20 years; he has also been taking oral anticoagulants for thrombosis for 15 years. The molecular defect for erythrocytosis was detected together with the rare Hb Olympia (HBB:c.61G>A) variant. This hemoglobin (Hb) variant was found in combination with two thalassemia-type globin gene defects, namely beta(0)-thalassemia (beta(0)-thal), HBB:c.118C>T and alpha(0)-thal (- -(MED)). This combination of three molecular defects is the first such case reported in the literature.
authors.affiliation: First Department of Internal Medicine, University of Athens, School of Medicine, Laikon Hospital, Athens, Greece. vkalotyc@med.uoa.gr
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Kalotychou
authors.forename: Revekka
authors.initials: R
authors.lastname: Tzanetea
authors.forename: Kostas
authors.initials: K
authors.lastname: Konstantopoulos
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Ioannis
authors.initials: I
authors.lastname: Rombos
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D001667:Binding, Competitive; D004252:DNA Mutational Analysis; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009154:Mutation; D010100:Oxygen / Q000378:metabolism*; D011086:Polycythemia / Q000235:genetics* / Q000378:metabolism; D011485:Protein Binding; D017085:alpha-Thalassemia / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C042121:hemoglobin Olympia; D005914:Globins; D010100:Oxygen