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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Factor V Leiden, prothrombin G20210A substitution and hormone therapy: indications for molecular screening

Maria Grazia Andreassi
  • Laboratory of Cellular Biology and Genetics, CNR-Institute of Clinical Physiology, “G. Pasquinucci” Hospital, Massa, Italy
/ Nicoletta Botto
  • Laboratory of Cellular Biology and Genetics, CNR-Institute of Clinical Physiology, “G. Pasquinucci” Hospital, Massa, Italy
/ Silvia Maffei
  • CNR Institute of Clinical Physiology, Pisa, Italy


Venous thromboembolism is a well-known complication of oral contraception and hormonal replacement therapy. Inherited thrombophilia is viewed as an important determinant in modulating the effects of estrogens on thrombotic risk. An increasing number of kits for thrombophilic mutations [factor V Leiden, G20210A prothrombin and methylenetetrahydrofolate reductase (MTHFR) C677T genes] are becoming commercially available, and screening for inherited thrombotic risk is among the most requested genetic tests in molecular diagnostic laboratories. However, the question of routine genetic screening for thrombophilia before prescribing hormones is still a matter of debate. The purpose of this article is to discuss the usefulness and practical applications of thrombotic genetic testing to identify which women should be tested to improve both the safety and efficacy of individualized estrogen therapy.

Keywords: genetic testing; hormonal replacement therapy; inherited thrombophilia; oral contraception, thrombotic risk

Corresponding author: Maria Grazia Andreassi, CNR-Institute of Clinical Physiology, G. Pasquinucci Hospital, Via Aurelia Sud-Montepepe, 54100 Massa, Italy Phone: +39-0585-493646, Fax: +39-0585-493601,

Received: January 10, 2006

Accepted: February 6, 2006

Published in Print: 2006-05-01

Citation Information: Clinical Chemical Laboratory Medicine. Volume 44, Issue 5, Pages 514–521, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2006.103, May 2006

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