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What is Thrombophilia

stem cells, thrombophiliaThrombophilia is the pathological hypercoagulable of blood in humans resulting in the development of clots in organs and vessels to create impairment to the affected organ or system. Part of the above is the  coagulation pathology during pregnancy resulting in thromboembolism in pregnants or the fetus, and even fetal loss (miscarriage).

The pregnancy itself, under physiological conditions, modifies the natural balance of coagulation and anticoagulation factors in female body so to protect the pregnant from bleeding and complications associated with this, during detachment of the placenta, whenever that happens.


Thrombophilia test in Omnigen

The test is made by isolating DNA and control the thrombophilic factors with Real-Time PCR methodology (Genotyping using the TaqMan assay (2008) Current Protocols in Human Genetics, (SUPPL. 56), pp. 2.10.1-2.10.8).


The mutations tested are:

Factor V Leiden (G1691A): The mutation in heterozygosity increases by 3 times the possibility of thrombosis. The mutation to homozygosity increases by 18 times the possibility of thrombosis and in smokers by 50%. [PMID 14996674]. Also, this mutation is associated with the severe form of preeclampsia. The risk of thrombosis among heterozygous is 1 in 500 pregnancies [PMID 10666427].

HR2 (H1299R): Polymorphism HR2 is considered mild risk factor for venous thrombosis. The risk for heterozygotes increases by 1.8 times regardless of the presence of other risk factors for thrombophilia. Complex heterozygous for the polymorphism HR2 and the Factor V Leiden mutation are more possibilities for venous thrombosis. [PMID 11848454]

MTHFR (C677T): The homozygous for the C677T mutation are at 11% of the Caucasian population. This mutation in homozygosity may cause hyperhomocysteinemia if dietary habits lack of folic acid, and has been associated with 3 times more risk for premature cardiovascular diseases in case of coexistence with other risk factors. Hyperhomocysteinemia is associated with the severe form of preeclampsia. As to the heterozygotes not been described clear clinical phenotype. [PMID 8554066]. The T allele has also been featured as an independent risk factor for hypertension [PMID 17726486].

MTHFR (A1298C): The mutation does not appear to affect the function of the protein MTHFR therefore the levels of homocysteine are not altered in the presence of this particular mutation. Composite heterozygotes for mutations C677T and A1298C exhibit similar clinical phenotype with homozygous for the mutation C677T, with higher levels of homocysteine and decreased folic acid levels in plasma. Complex heterozygotes are also two times more likely to develop neural tube syndrome [PMID 9545395]

PROTHROMBIN (G20210A): the G20210A mutation in the prothrombin gene is found in 2-3% of the Caucasian population and has been described in 6% of patients with thromboembolic incident. The mutation has been associated with increased risk by 4 times for myocardial infarction in women, while among men, the risk increases by 1.5 times [PMID 9531249]. This mutation in heterozygosity was proved the most common among patients with miscarriage in the first trimester [PMID 11506076]


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