Annals of Hematology

, Volume 85, Issue 4, pp 268–271 | Cite as

Thrombophilic mutations in Iranian patients with infertility and recurrent spontaneous abortion

  • Reza Behjati
  • Mohammad Hossein Modarressi
  • Mahmood Jeddi-Tehrani
  • Pouneh Dokoohaki
  • Jamileh Ghasemi
  • Amir Hassan Zarnani
  • Mahmoud Aarabi
  • Toktam Memariani
  • Marefat Ghaffari
  • Mehdi A. Akhondi
Original Article


Factor V Leiden (FVL) G1691A, methylenetetrahydrofolate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, the condition that might be related to infertility and recurrent spontaneous abortion (RSA). In this study we evaluated the presence of these three mutations in 36 female patients with unexplained infertility, 65 female patients with unexplained RSA, and 62 healthy fertile women as control group. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. In addition, activated protein C resistance (APC-R) was also evaluated. The frequencies of FVL, MTHFR, and FII mutations (heterozygous and homozygous) in the control group were 0.0%, 38.7%, and 3.2%, respectively. The frequency of FVL mutation in patients with infertility (30.6%) or RSA (20.0%) was significantly higher than that of the control group. A significantly higher MTHFR mutation rate was also observed in patients with RSA (63.1%) as compared to controls. However, the mutation rate of MTHFR in patients with infertility (50.0%) was not statistically different from that in controls. No significant difference was observed in the frequencies of FII mutations between the patients and controls. Decreased levels of APC-R were observed in 25.0% of infertile patients and 18.9% of patients with RSA. In conclusion, our results show a skew towards higher mutation frequencies of FVL and MTHFR in patients that may necessitate detection of such mutations in these Iranian patients.


Factor V Leiden Methylenetetrahydrofolate reductase Factor II Thrombophilia Recurrent spontaneous abortion Infertility 



We would like to express our sincerest appreciation to Dr. Akhondi as the chairman of Avesina Research Institute for his kindness in providing all of the expenses of this project.


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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Reza Behjati
    • 1
  • Mohammad Hossein Modarressi
    • 1
    • 2
    • 4
  • Mahmood Jeddi-Tehrani
    • 3
  • Pouneh Dokoohaki
    • 3
  • Jamileh Ghasemi
    • 1
  • Amir Hassan Zarnani
    • 3
  • Mahmoud Aarabi
    • 1
  • Toktam Memariani
    • 1
  • Marefat Ghaffari
    • 1
  • Mehdi A. Akhondi
    • 1
  1. 1.Reproductive Biology, Biotechnology and Infertility Research CenterAvesina Research InstituteTehranIran
  2. 2.Department of Medical GeneticsTehran University of Medical SciencesTehranIran
  3. 3.Monoclonal Antibody Research CenterAvesina Research InstituteTehranIran
  4. 4.Department of Genetics and InfertilityAvesina Research InstituteTehranIran

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