Τίτλος:
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
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Kalotychou, Vassiliki
Tzanetea, Revekka
Konstantopoulos, Kostas
and Papassotiriou, Ioannis
Rombos, Ioannis
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
Taylor and Francis Inc.
Λέξεις-κλειδιά:
Hb Olympia; Erythrocytosis; beta(0)-Thalassemia (beta(0)-thal);
alpha(0)-Thalassemia (alpha(0)-thal)
DOI:
10.3109/03630269.2010.486331
