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.
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.
Kalotychou
Vassiliki
V
First Department of Internal Medicine, University of Athens, School of Medicine, Laikon Hospital, Athens, Greece. vkalotyc@med.uoa.gr
Tzanetea
Revekka
R
Konstantopoulos
Kostas
K
Papassotiriou
Ioannis
I
Rombos
Ioannis
I
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
D006455:Hemoglobins, Abnormal; C042121:hemoglobin Olympia; D005914:Globins; D010100:Oxygen