Document Detail


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.
MedLine Citation:
PMID:  20642336     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hemoglobin     Volume:  34     ISSN:  1532-432X     ISO Abbreviation:  Hemoglobin     Publication Date:  2010  
Date Detail:
Created Date:  2010-07-20     Completed Date:  2010-10-29     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  England    
Other Details:
Languages:  eng     Pagination:  383-8     Citation Subset:  IM    
Affiliation:
First Department of Internal Medicine, University of Athens, School of Medicine, Laikon Hospital, Athens, Greece. vkalotyc@med.uoa.gr
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MeSH Terms
Descriptor/Qualifier:
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
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 39283-12-0/hemoglobin Olympia; 7782-44-7/Oxygen; 9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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