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Heterozygous prothrombin 20210G-A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C-T mutation, in a patient with portal and mesenteric venous thrombosis

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dc.contributor.author Elhajj I.I.
dc.contributor.author Salem Z.M.K.
dc.contributor.author Birjawi G.A.
dc.contributor.author Taher A.T.
dc.contributor.author Soweid A.M.
dc.contributor.editor
dc.date Dec-2004
dc.date.accessioned 2017-10-05T15:39:15Z
dc.date.available 2017-10-05T15:39:15Z
dc.date.issued 2004
dc.identifier 10.1038/sj.thj.6200560
dc.identifier.isbn
dc.identifier.issn 14664860
dc.identifier.uri http://hdl.handle.net/10938/16763
dc.description.abstract We herein report a 34-year-old man who was investigated for severe abdominal pain. Portal vein thrombosis (PVT) and mesenteric vein thrombosis (MVT) were diagnosed. An association with two predisposing factors for thrombosis was noted: (1) heterozygous factor II 20210G-A mutation and (2) homozygous methylenetetrahydrofolate reductase (MTHFR) 677C-T mutation with hyperhomocysteinemia. Our case is of particular interest because the patient reported herein, is homozygote for the MTHFR 677C-T mutation, while the only two other cases reported in the literature with similar gene mutations, were heterozygotes for the mutation. © 2004 The European Hematology Association All rights reserved.
dc.format.extent
dc.format.extent Pages: (540-542)
dc.language English
dc.publisher LONDON
dc.relation.ispartof Publication Name: Hematology Journal; Publication Year: 2004; Volume: 5; no. 6; Pages: (540-542);
dc.relation.ispartofseries
dc.relation.uri
dc.source Scopus
dc.subject.other
dc.title Heterozygous prothrombin 20210G-A mutation, associated with hyperhomocysteinemia, and homozygous methylenetetrahydrofolate reductase 677C-T mutation, in a patient with portal and mesenteric venous thrombosis
dc.type Article
dc.contributor.affiliation Elhajj, I.I., Department of Internal Medicine, American Univ. of Beirut Med. Center, Hamra Street, Beirut 1103-2090, Lebanon
dc.contributor.affiliation Salem, Z.M.K., Department of Internal Medicine, American Univ. of Beirut Med. Center, Hamra Street, Beirut 1103-2090, Lebanon
dc.contributor.affiliation Birjawi, G.A., Department of Diagnostic Radiology, AUBMC, Hamra Street, Beirut 1103-2090, Lebanon
dc.contributor.affiliation Taher, A.T., Department of Internal Medicine, American Univ. of Beirut Med. Center, Hamra Street, Beirut 1103-2090, Lebanon
dc.contributor.affiliation Soweid, A.M., Department of Internal Medicine, American Univ. of Beirut Med. Center, Hamra Street, Beirut 1103-2090, Lebanon
dc.contributor.authorAddress Soweid, A.; Department of Internal Medicine, American Univ. of Beirut Med. Center, Hamra Street, Beirut 1103-2090, Lebanon; email: as25@aub.edu.lb
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Internal Medicine;
dc.contributor.authorDepartment Internal Medicine
dc.contributor.authorDivision
dc.contributor.authorEmail as25@aub.edu.lb
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials ElHajj, II
dc.contributor.authorInitials Salem, ZMK
dc.contributor.authorInitials Birjawi, GA
dc.contributor.authorInitials Taher, AT
dc.contributor.authorInitials Soweid, AM
dc.contributor.authorOrcidID
dc.contributor.authorReprintAddress Soweid, AM (reprint author), Amer Univ Beirut, Dept Internal Med, Med Ctr, POB 113-6044,Hamra St, Beirut 11032090, Lebanon.
dc.contributor.authorResearcherID
dc.contributor.authorUniversity American University of Beirut Medical Center
dc.description.cited ALKARAWI MA, 1990, HEPATO-GASTROENTEROL, V37, P507; BLUM U, 1995, RADIOLOGY, V195, P153; Brown K, 1998, BRIT J HAEMATOL, V103, P42, DOI 10.1046-j.1365-2141.1998.00935.x; Chamouard P, 1999, GASTROENTEROLOGY, V116, P144, DOI 10.1016-S0016-5085(99)70238-6; Deloughery TG, 1996, CIRCULATION, V94, P3074; denHeijer M, 1996, NEW ENGL J MED, V334, P759, DOI 10.1056-NEJM199603213341203; De Stefano V, 2000, SEMIN THROMB HEMOST, V26, P305, DOI 10.1055-s-2000-8473; FALCON CR, 1994, ARTERIOSCLER THROMB, V14, P1080; Hainaut P, 2002, THROMB RES, V106, P121, DOI 10.1016-S0049-3848(02)00096-8; Lee R, 2003, HEMATOL ONCOL CLIN N, V17, P85, DOI 10.1016-S0889-8588(02)00090-4; Marie I, 2000, GASTROENTEROLOGY, V118, P237, DOI 10.1016-S0016-5085(00)70442-2; Ocal IT, 1997, MOL DIAGN, V2, P61, DOI 10.1016-S1084-8592(97)80012-4; Ridker PM, 1997, CIRCULATION, V95, P1777; Silingardi M, 2000, THROMB HAEMOSTASIS, V84, P358; Souto JC, 1998, THROMB HAEMOSTASIS, V80, P366; Taher A, 2001, THROMB HAEMOSTASIS, V86, P723
dc.description.citedCount 10
dc.description.citedTotWOSCount 7
dc.description.citedWOSCount 6
dc.format.extentCount 3
dc.identifier.articleNo
dc.identifier.coden HJEOB
dc.identifier.pubmedID 15570301
dc.identifier.scopusID 11044231850
dc.identifier.url
dc.publisher.address MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
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dc.relation.ispartofConferenceDate
dc.relation.ispartofConferenceHosting
dc.relation.ispartofConferenceLoc
dc.relation.ispartofConferenceSponsor
dc.relation.ispartofConferenceTitle
dc.relation.ispartofFundingAgency
dc.relation.ispartOfISOAbbr Hematol. J.
dc.relation.ispartOfIssue 6
dc.relation.ispartOfPart
dc.relation.ispartofPubTitle Hematology Journal
dc.relation.ispartofPubTitleAbbr Hematol. J.
dc.relation.ispartOfSpecialIssue
dc.relation.ispartOfSuppl
dc.relation.ispartOfVolume 5
dc.source.ID WOS:000227379500017
dc.type.publication Journal
dc.subject.otherAuthKeyword Factor II 20210G-A mutation
dc.subject.otherAuthKeyword Hyperhomocysteinemia
dc.subject.otherAuthKeyword MTHFR 677C-T mutation
dc.subject.otherAuthKeyword Porto-mesenteric vein thrombosis
dc.subject.otherChemCAS 5,10 methylenetetrahydrofolate reductase (FADH2), 9028-69-7
dc.subject.otherChemCAS adenine, 22177-51-1, 2922-28-3, 73-24-5
dc.subject.otherChemCAS cyanocobalamin, 53570-76-6, 68-19-9, 8064-09-3
dc.subject.otherChemCAS cytosine, 71-30-7
dc.subject.otherChemCAS folic acid, 59-30-3, 6484-89-5
dc.subject.otherChemCAS guanine, 69257-39-2, 73-40-5
dc.subject.otherChemCAS heparin, 37187-54-5, 8057-48-5, 8065-01-8, 9005-48-5
dc.subject.otherChemCAS prothrombin, 9001-26-7
dc.subject.otherChemCAS thymine, 65-71-4
dc.subject.otherChemCAS Methylenetetrahydrofolate Reductase (NADPH2), EC 1.5.1.20
dc.subject.otherChemCAS Prothrombin, 9001-26-7
dc.subject.otherIndex 5,10 methylenetetrahydrofolate reductase (FADH2)
dc.subject.otherIndex adenine
dc.subject.otherIndex anticoagulant agent
dc.subject.otherIndex cyanocobalamin
dc.subject.otherIndex cytosine
dc.subject.otherIndex folic acid
dc.subject.otherIndex guanine
dc.subject.otherIndex heparin
dc.subject.otherIndex prothrombin
dc.subject.otherIndex thymine
dc.subject.otherIndex abdominal pain
dc.subject.otherIndex adult
dc.subject.otherIndex agar gel electrophoresis
dc.subject.otherIndex article
dc.subject.otherIndex case report
dc.subject.otherIndex computer assisted tomography
dc.subject.otherIndex disease severity
dc.subject.otherIndex Doppler echography
dc.subject.otherIndex echography
dc.subject.otherIndex genetic association
dc.subject.otherIndex genetic predisposition
dc.subject.otherIndex heterozygosity
dc.subject.otherIndex homozygosity
dc.subject.otherIndex human
dc.subject.otherIndex hyperhomocysteinemia
dc.subject.otherIndex male
dc.subject.otherIndex mesenteric vein thrombosis
dc.subject.otherIndex mutational analysis
dc.subject.otherIndex polymerase chain reaction
dc.subject.otherIndex portal vein thrombosis
dc.subject.otherIndex Adult
dc.subject.otherIndex Heterozygote
dc.subject.otherIndex Homozygote
dc.subject.otherIndex Humans
dc.subject.otherIndex Hyperhomocysteinemia
dc.subject.otherIndex Male
dc.subject.otherIndex Mesenteric Vascular Occlusion
dc.subject.otherIndex Mesenteric Veins
dc.subject.otherIndex Methylenetetrahydrofolate Reductase (NADPH2)
dc.subject.otherIndex Point Mutation
dc.subject.otherIndex Portal Vein
dc.subject.otherIndex Prothrombin
dc.subject.otherIndex Venous Thrombosis
dc.subject.otherKeywordPlus FACTOR-V-LEIDEN
dc.subject.otherKeywordPlus II G20210A MUTATION
dc.subject.otherKeywordPlus VEIN-THROMBOSIS
dc.subject.otherKeywordPlus RISK-FACTOR
dc.subject.otherKeywordPlus COMMON MUTATION
dc.subject.otherKeywordPlus HIGH PREVALENCE
dc.subject.otherKeywordPlus THROMBOEMBOLISM
dc.subject.otherKeywordPlus HYPERHOMOCYST(E)INEMIA
dc.subject.otherKeywordPlus ALLELE
dc.subject.otherWOS Hematology


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