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Type: Artigo de periódico
Title: Prothrombin Mutant, Factor V Leiden, And Thermolabile Variant Of Methylenetetrahidrofolate Reductase Among Patients With Sickle Cell Disease In Brazil
Author: Andrade F.L.
Annichino-Bizzacchi J.M.
Saad S.T.O.
Costa F.F.
Arruda V.R.
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/β°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.
Citation: American Journal Of Hematology. , v. 59, n. 1, p. 46 - 50, 1998.
Rights: fechado
Identifier DOI: 10.1002/(SICI)1096-8652(199809)59:1<46::AID-AJH9>3.0.CO;2-#
Date Issue: 1998
Appears in Collections:Unicamp - Artigos e Outros Documentos

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