Naslov
Prevalence of the prothrombin 20210 G -> A gene mutation among Croatian patients with venous thromboembolic disease

Autori
Coen, Desiree ; Zadro, Renata ; Honović, Lorena ; Banfić, Ljiljana ; Kozulić, Mirjana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
XVII Congress of the International Society on Thrombosis and Haemostasis

Mjesto i datum
Sjedinjene Američke Države, 14.08.1999. - 21.08.1999

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
prothrombin 20210 G -> A gene; mutation

Sažetak
The prothrombin 20210 GA gene mutation has recently been reported as a risk factor for venous thrombosis estimated to be present in up to 6% thrombotic patients. Laboratory diagnosis for the presence of the prothrombin 20210 mutation relies completely on DNA analysis. We evaluated the prevalence of this mutation among 149 patients with at least one episode of venous thromboembolism (47 males, 102 females) and 46 healthy subjects (12 males, 34 females) as a control group. DNA analysis for the factor II gene mutation was performed according to Poort et al (Blood 1996 ; 88:3698) with electrophoretic detection of digested products on Spreadex gels (Guest Elchrom Scientific, Cham, Switzerland). Additionally, other known hereditary and acquired markers of thrombotic risk (lupus anticoagulant using Staclot LA, factor VIII:C, factor XII, antithrombin, protein C, protein S and plasminogen activities, total and free protein S: Ag, APC resistance and factor V Leiden with Mnl I digestion) were investigated in the same group of patients. Among all the individuals tested, 7 patients (4.7%) and 1 healthy control (2.2%) were found to be heterozygous for the 20210 A mutation. No homozygous individual was detected. Isolated deficiency of antithrombin (n = 3), protein C (n =5), protein S (n = 5), was found in 13 patients (8.7%). None of the patients showed decreased plasminogen activity. Factor V Leiden was found in 14 (13 heterozygous, 1 homozygous) out of 149 patients (9.4%). High factor VIII:C levels > 150 iu/dl (n = 23), positive LA (n = 5) and decreased factor XII activities (n =2) were found as the only risk factor in 30 patients (20%). In addition, two patients (1.3%) were found to have more than one defect ; co-inheritance of the prothrombin mutation with heterozygous factor V Leiden was found in one patient, while in one case a heterozygous factor V Leiden was associated with protein C deficiency. Our results show that the prevalence of the prothrombin mutation is increased in patients with venous thromboembolic disease and is similar to already published results. Findings of additional defects in the same group of patients corroborate recommendations for the complete laboratory investigation in all thrombophilic patients.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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