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: Vassiliki Kalotychou, Revekka Tzanetea, Kostas Konstantopoulos, Ioannis Papassotiriou, Ioannis Rombos
• Journal: Hemoglobin (Hemoglobin) Vol. 34 Issue 4 Pg. 383-8 ( 2010) ISSN: 1532-432X [Electronic] England
• PMID: 20642336 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Olympia
• Globins
• Oxygen

Topics

• Adult
• Amino Acid Substitution
• Base Sequence
• Binding, Competitive
• DNA Mutational Analysis
• Globins (genetics)
• Hemoglobins, Abnormal (genetics, metabolism)
• Humans
• Male
• Mutation
• Oxygen (metabolism)
• Polycythemia (genetics, metabolism)
• Protein Binding
• alpha-Thalassemia (genetics)
• beta-Thalassemia (genetics)