@article{3144519, title = "ERYTHROCYTOSIS DUE TO A COMBINATION OF THE HIGH OXYGEN AFFINITY HEMOGLOBIN VARIANT, Hb OLYMPIA [beta 20(B2)VAL -> MET] WITH beta- AND alpha-THALASSEMIA MUTATIONS: FIRST CASE IN THE LITERATURE", author = "Kalotychou, Vassiliki and Tzanetea, Revekka and Konstantopoulos, Kostas and and Papassotiriou, Ioannis and Rombos, Ioannis", journal = "Hemoglobin: Interrnational Journal for Hemoglobin Research", year = "2010", volume = "34", number = "4", pages = "383-388", publisher = "Taylor and Francis Inc.", issn = "0363-0269", doi = "10.3109/03630269.2010.486331", keywords = "Hb Olympia; Erythrocytosis; beta(0)-Thalassemia (beta(0)-thal); alpha(0)-Thalassemia (alpha(0)-thal)", 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." }