logo BDSP

Base documentaire

  1. Prothrombin mutant, factor V leiden, and thermolabile variant of methylenetetrahidrofolate reductase among patients with sickle cell disease in Brazil.

    Article - En anglais

    The prevalence of the prothrombin gene variant (allele 20.210 A), factor V Leiden mutation, and homozygosity for transition 677C

    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/bêta0 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.

    Mots-clés Pascal : Anémie hématie falciforme, Prothrombine, Facteur coagulation, Variant génétique, Mutation, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Résistance, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Facteur V Leiden, Thrombose, Gène, Complication, Epidémiologie, Prévalence, Brésil, Amérique du Sud, Amérique, Homme, Hémopathie, Anémie hémolytique, Hémoglobinopathie, Maladie héréditaire, Coagulopathie, Génétique, Appareil circulatoire pathologie, Vaisseau sanguin pathologie, Thermolabile

    Mots-clés Pascal anglais : Sickle cell anemia, Prothrombin, Coagulation factor, Genetic variant, Mutation, Methylenetetrahydrofolate reductase (NADPH), Oxidoreductases, Enzyme, Resistance, Protein C (activated), Serine endopeptidases, Peptidases, Hydrolases, Factor V Leiden, Thrombosis, Gene, Complication, Epidemiology, Prevalence, Brazil, South America, America, Human, Hemopathy, Hemolytic anemia, Hemoglobinopathy, Genetic disease, Coagulopathy, Genetics, Cardiovascular disease, Vascular disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 98-0423222

    Code Inist : 002B19A01. Création : 25/01/1999.