Frequency of thrombophilia-associated mutations and polymorphisms in pregnant women with a history of thrombosis or pregnancy complications
Ana-Maria Vlădăreanu, Minodora Onisâi, Iuliana Iordan, Eugen Radu, Adrian Roşca, Octavian Munteanu, Dan Sebastian Soare, Cristina Mambet, Suzana Elena Voiculescu, Horia Bumbea, Irina Voican, Anca Nicolescu, Alina Mititelu, Raluca Nistor, Diana Secară, Anda Băicuș, Monica Cîrstoiu- Biochemistry (medical)
- Clinical Biochemistry
- Molecular Biology
- Biochemistry
Abstract
Objectives
To assess the frequency of multiple thrombophilia-associated mutations and polymorphisms in a selected population of high-risk pregnancies.
Methods
Thrombophilia screening was performed for 1,500 pregnant women with prior pregnancy complications or thrombotic events. Nine thrombophilia-associated mutations or polymorphisms were screened: factor V Leiden, factor V H1299R, prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, PAI-1 4G/5G polymorphisms, EPCR G4600A, EPCR C4678G.
Results
Out of the 1,500 patients, 1,291 fulfilled the criteria for data interpretation. All patients had low-risk thrombophilia-associated genetic variants. Only 1.24 % of cases presented high-risk abnormalities (homozygous factor V Leiden/prothrombin G20210A, or both mutations in heterozygous form). Heterozygous factor V Leiden occurred in 10.38 % of cases, while only 5.81 % carried heterozygous prothrombin G20210A mutation. The frequency of prothrombin G20210A mutation was higher (10.37 %) in the subgroup associating factor V Leiden, than in the subgroup lacking it (5.36 %). Low-risk genetic variants occurred with a higher frequency: 23.78 % factor V H1299R, 57.32 % MTHFR C677T, 55.54 % MTHFR A1298C, 44.07 % factor XIII V34L, 73.20 % PAI-1 4G/5G polymorphisms, 69.64 % EPCR G4600A, and 69.63 % EPCR C4678G.
Conclusions
All patients had at least one prothrombotic genetic mutation or variant. Our data highlight the need for thrombophilia screening, including low-risk genetic variants, in a high-risk population of pregnant women with a history of pregnancy complications or thrombotic events.