Genetic analysis of patients with deep vein thrombosis during pregnancy and postpartum

  • Reiko Neki
  • Tomio Fujita
  • Koichi Kokame
  • Isao Nakanishi
  • Masako Waguri
  • Yuzo Imayoshi
  • Noriyuki Suehara
  • Tomoaki Ikeda
  • Toshiyuki Miyata
Original Article

DOI: 10.1007/s12185-011-0902-z

Cite this article as:
Neki, R., Fujita, T., Kokame, K. et al. Int J Hematol (2011) 94: 150. doi:10.1007/s12185-011-0902-z

Abstract

Deep vein thrombosis (DVT) is a serious pregnancy-related complication. Recent studies indicate that the genetic background for DVT differs with ethnicity. In our study, we enrolled 18 consecutive Japanese patients who had developed DVT during pregnancy and postpartum. We performed a genetic analysis of three candidate genes for DVT, protein S, protein C and antithrombin, in these patients. We found that four patients had missense mutations in the protein S gene, including the K196E mutation in two patients, the L446P mutation in one patient, and the D79Y and T630I mutations in one patient, as well as one patient with the C147Y mutation in the protein C gene. All five patients with genetic mutations had DVT in their first two trimesters. Nine of the patients without genetic mutations developed DVT in the first two trimesters, and four in the postpartum period. Thus, genetic mutations in the protein S gene were predominant in pregnant Japanese DVT women, and DVT in pregnant women with genetic mutations occurred more frequently at the early stage of pregnancy than postpartum. Considering the rapid decrease in protein S activity during pregnancy, we may need to assess thrombophilia in women before pregnancy.

Keywords

Deep vein thrombosis Protein S Thrombophilia Pregnancy 

Copyright information

© The Japanese Society of Hematology 2011

Authors and Affiliations

  • Reiko Neki
    • 1
  • Tomio Fujita
    • 2
  • Koichi Kokame
    • 3
  • Isao Nakanishi
    • 2
  • Masako Waguri
    • 2
  • Yuzo Imayoshi
    • 4
  • Noriyuki Suehara
    • 5
  • Tomoaki Ikeda
    • 1
  • Toshiyuki Miyata
    • 3
  1. 1.Department of Perinatology and GynecologyNational Cerebral and Cardiovascular CenterSuitaJapan
  2. 2.Department of Maternal MedicineOsaka Medical Center and Research Institute for Maternal and Child HealthIzumiJapan
  3. 3.Department of Molecular PathogenesisNational Cerebral and Cardiovascular CenterSuitaJapan
  4. 4.Department of Clinical MedicineOsaka Medical Center and Research Institute for Maternal and Child HealthIzumiJapan
  5. 5.Department of ObstetricsOsaka Medical Center and Research Institute for Maternal and Child HealthIzumiJapan

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