Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/58350
Type: Artigo de periódico
Title: Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil
Author: Andrade, FL
Annichino-Bizzacchi, JM
Saad, STO
Costa, FF
Arruda, VR
Abstract: The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C-->T in the methylenetetrahydrofolate reductase (MTHFR) gene was determined among patients with sickle cell disease (SCD), The group included 73 patients with median age of 32.3 years with a diagnosis of sickle cell anemia in 53 patients, hemoglobinopathy SC in 16 patients, and four with S/beta(0) thalassemia, Vascular complications such as ischemic stroke or deep vein thrombosis were diagnosed in nine patients. Heterozygosity for the prothrombin gene variant or factor V Leiden mutation was identified in four patients. However, only one patient, who developed ischemic stroke, was identified as a carrier of factor V Leiden mutation. None of the patients presented homozygosity for the thermolabile variant of the MTHFR, These data suggest a low clinical impact of inherited hypercoagulability risk factors in developing thrombosis, occlusive stroke, or mortality data among patients with SCD in Brazil. (C) 1998 Wiley-Liss, Inc.
Subject: factor V gene
prothrombin gene
homocysteine
sickle cell disease
thrombosis
Country: EUA
Editor: Wiley-liss
Rights: fechado
Identifier DOI: 10.1002/(SICI)1096-8652(199809)59:1<46
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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