| 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. | |
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MedLine Citation:
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PMID: 20642336 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Vassiliki Kalotychou; Revekka Tzanetea; Kostas Konstantopoulos; Ioannis Papassotiriou; Ioannis Rombos |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Hemoglobin Volume: 34 ISSN: 1532-432X ISO Abbreviation: Hemoglobin Publication Date: 2010 |
Date Detail:
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Created Date: 2010-07-20 Completed Date: 2010-10-29 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7705865 Medline TA: Hemoglobin Country: England |
Other Details:
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Languages: eng Pagination: 383-8 Citation Subset: IM |
Affiliation:
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First Department of Internal Medicine, University of Athens, School of Medicine, Laikon Hospital, Athens, Greece. vkalotyc@med.uoa.gr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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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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