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Titolo:
Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies
Autore:
Tirado, I; Mateo, J; Soria, JM; Oliver, A; Borrell, M; Coll, I; Vallve, C; Souto, JC; Martinez-Sanchez, E; Fontcuberta, J;
Indirizzi:
Hosp Santa Creu & Sant Pau, Thrombosis & Hemostasis Unit, Dept Hematol, Barcelona 08025, Spain Hosp Santa Creu & Sant Pau Barcelona Spain 08025 Barcelona 08025, Spain Fundacio Puigvert, Dept Hematol, Barcelona, Spain Fundacio Puigvert Barcelona Spain gvert, Dept Hematol, Barcelona, Spain
Titolo Testata:
HAEMATOLOGICA
fascicolo: 11, volume: 86, anno: 2001,
pagine: 1200 - 1208
SICI:
0390-6078(200111)86:11<1200:COP2AA>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
ACTIVATED PROTEIN-C; DEEP VENOUS THROMBOSIS; INHERITED THROMBOPHILIA; 3'-UNTRANSLATED REGION; COAGULATION DEFECTS; MULTIGENIC DISEASE; S DEFICIENCY; THROMBOEMBOLISM; GENE; RESISTANCE;
Keywords:
thrombophilia; genetic risk factors; PT20210A mutation; factor V Leiden; family study;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Soria, JM Hosp Santa Creu & Sant Pau, Thrombosis & Hemostasis Unit, Dept Hematol, C Sant Antoni Ma Claret,167, Barcelona 08025, Spain Hosp Santa Creu& Sant Pau C Sant Antoni Ma Claret,167 Barcelona Spain 08025
Citazione:
I. Tirado et al., "Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies", HAEMATOLOG, 86(11), 2001, pp. 1200-1208

Abstract

Background and Objectives. The aims of this study were to compare the lifetime probability of developing thrombosis in 722 relatives of 132 thrombophilic families of symptomatic probands with recognized thrombophilic defectsand to determine the prevalence of the factor V Leiden (FVL) mutation and the 20210A allele of the prothrombin gene (PT20210A) in these families. Design and Methods. The study included 722 members belonging to 132 unrelated families. The propositi were patients who had been referred to our Thrombosis Unit. The families were selected through a symptomatic proband. Oncea patient with a deficiency or mutation was identified, family members were screened for the same defect. Results. The prevalence of FVL and PT20210A in families with other thrombophilic defects was higher than expected. Compared with non-deficient individuals, the risk of venous thrombosis was increased in subjects with antithrombin (AT), protein S (PS) and protein C (PC) deficiencies, and in carriersof FVL and PT20210A mutations. The risk of thrombosis was significantly increased for individuals with combined genetic defects (PC-FVL, PS-FVL, PS-PT20210A and FVL-PT20210A). The ages at the time of 50% thrombosis-free survival were as follows: 34 years for AT deficiency, (19 years with FVL, 21 years with PT20210A), 62 years for PC deficiency (33 years with FVL, 44 yearswith PT20210A), 37 years for PS deficiency (24 years with FVL, 36 years with PT20210A), 50 years for the FVL mutation (52 years with PT20210A), and 65 years for the PT20210A mutation. As for clinical characteristics, no differences were observed except for the higher frequency of oral contraceptive-related thrombosis in women who were carriers of PT20210A or FVL. Interpretation and Conclusions. Based on these results, screening for FVL and PT20210A mutation is recommended in patients with other thrombophilic defects. To the best of our knowledge, this is the first family study, including the PT20210A mutation, that compares genetic risk factors for thrombosis and the lifelong probability of developing thrombosis. (C) 2001, FerrataStorti Foundation.

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Documento generato il 14/07/20 alle ore 11:15:53