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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