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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 4
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Short Communications

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

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Pages 383-388 | Received 30 Nov 2009, Accepted 29 Jan 2010, Published online: 19 Jul 2010
 

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.

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