Frequency of thrombophilia-associated mutations and polymorphisms in pregnant women with a history of thrombosis or pregnancy complications
Author:
Vlădăreanu Ana-Maria1ORCID, Onisâi Minodora1ORCID, Iordan Iuliana12ORCID, Radu Eugen34ORCID, Roşca Adrian56ORCID, Munteanu Octavian78ORCID, Soare Dan Sebastian49ORCID, Mambet Cristina110ORCID, Voiculescu Suzana Elena5ORCID, Bumbea Horia1ORCID, Voican Irina11ORCID, Nicolescu Anca11ORCID, Mititelu Alina1ORCID, Nistor Raluca12ORCID, Secară Diana13ORCID, Băicuș Anda314ORCID, Cîrstoiu Monica13ORCID
Affiliation:
1. Hematology, Emergency University Hospital of Bucharest , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 2. Medical Semiology and Nephrology , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 3. Microbiology III , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 4. Molecular Biology Laboratory , Emergency University Hospital of Bucharest , Bucharest , Romania 5. Physiology , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 6. Cardiology , Emergency University Hospital of Bucharest , Bucharest , Romania 7. Anatomy , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 8. Obstetrics and Gynecology , Emergency University Hospital of Bucharest , Bucharest , Romania 9. Histology and Molecular and Cellular Biology , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 10. Virology , “Stefan S. Nicolau” Institute , Bucharest , Romania 11. Hematology , Emergency University Hospital of Bucharest , Bucharest , Romania 12. Neurology, Emergency University Hospital of Bucharest , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 13. Obstetrics and Gynecology, Emergency University Hospital of Bucharest , “Carol Davila” University of Medicine and Pharmacy , Bucharest , Romania 14. Clinical Central Laboratory , Emergency University Hospital of Bucharest , Bucharest , Romania
Abstract
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.
Funder
The Norwegian Grant, and the Romanian project financed by Romanian Ministry of Health – “Improvement of health services for high risk pregnancy, premature birth and hematological diseases”.
Publisher
Walter de Gruyter GmbH
Subject
Biochemistry (medical),Clinical Biochemistry,Molecular Biology,Biochemistry
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