TY - JOUR
TI - 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
AU - Kalotychou, Vassiliki
AU - Tzanetea, Revekka
AU - Konstantopoulos, Kostas
AU - and Papassotiriou, Ioannis
AU - Rombos, Ioannis
JO - Hemoglobin:  Interrnational Journal for Hemoglobin Research
PY - 2010
VL - 34
TODO - 4
SP - 383-388
PB - Taylor and Francis Inc.
SN - 0363-0269
TODO - 10.3109/03630269.2010.486331
TODO - Hb Olympia; Erythrocytosis; beta(0)-Thalassemia (beta(0)-thal);
alpha(0)-Thalassemia (alpha(0)-thal)
TODO - 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.
ER -