Erythrocytosis Due to a Combination of the High Oxygen Affinity Hemoglobin Variant, Hb Olympia [β20(B2)Val→Met] with β- and α-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 β⁰-thalassemia (β⁰-thal), HBB:c.118C>T and α⁰-thal (– –^MED). This combination of three molecular defects is the first such case reported in the literature.

Keywords:

• Hb Olympia
• Erythrocytosis
• β⁰-Thalassemia (β⁰-thal)
• α⁰-Thalassemia (α⁰-thal)