Back to Search
Start Over
Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnant woman homozygous for factor V Leiden and heterozygous for the G127 ← A mutation in the thrombomodulin gene
- Source :
- Blood Coagulation and Fibrinolysis. 11:761-765
- Publication Year :
- 2000
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2000.
-
Abstract
- Variability of thrombotic disease among individuals homozygous for factor V Leiden has been described. It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene. The occurrence of a deep vein thrombosis during enoxaparin prophylactic treatment in a pregnant woman homozygous for factor V Leiden, without other known prothrombotic genetic factors, led us to investigate her thrombomodulin gene. We found that the patient was heterozygous for the previously described G 127 → A mutation, which results in an Ala 25 → Thr substitution. Furthermore, for this patient, the allelic combination at the 1418 polymorphic site was C/T, which predicts an Ala 455 → Val replacement. Although larger studies are required, this case report suggests that thrombomodulin gene mutations could be an additional genetic risk factor for thrombosis in carriers of the factor V Leiden mutation.
- Subjects :
- Adult
medicine.medical_specialty
Thrombomodulin
Deep vein
Pregnancy Complications, Cardiovascular
medicine.disease_cause
Pregnancy
Internal medicine
medicine
Factor V Leiden
Humans
Point Mutation
Enoxaparin
Allele
Mutation
business.industry
Anticoagulants
Factor V
Hematology
General Medicine
Thrombophlebitis
medicine.disease
Thrombosis
Endocrinology
medicine.anatomical_structure
Female
business
Enoxaparin sodium
Protein C
medicine.drug
Subjects
Details
- ISSN :
- 09575235
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Blood Coagulation and Fibrinolysis
- Accession number :
- edsair.doi.dedup.....5d89361ecde1ca953a01164c0d2ee758