05 Mar Thrombophilia, genetic background and testing
Thrombophilia is a medical condition characterized by an increased risk of thromboembolism, which refers to the formation of blood clots that block blood vessels.
These clots can lead to serious health problems, such as stroke, pulmonary embolism, and deep vein thrombosis. Thrombophilia can be caused by a variety of factors, including genetic mutations, acquired conditions, and environmental factors.
The clinical importance of thrombophilia cannot be overestimated.
It is estimated that about 1% of the general population may have a genetic predisposition to thrombophilia. Some genetic mutations that increase the risk of thrombophilia include factor V Leiden, prothrombin G20210A, and MTHFR mutations.
These mutations can lead to the formation of abnormal blood clots, which can cause a number of health problems. For example, people with thrombophilia may have an increased risk of developing deep vein thrombosis, which occurs when a blood clot forms in the deep veins of the legs, arms, or pelvis. Deep vein thrombosis can lead to serious complications such as pulmonary embolism, which can be fatal if left untreated.
Thrombophilia can also have negative implications for pregnancy.
Pregnant women with thrombophilia have an increased risk of developing complications such as preeclampsia, intrauterine growth restriction and stillbirth. These complications are thought to occur due to an increased risk of blood clotting during pregnancy.
In addition, thrombophilia can increase the risk of pregnancy loss and recurrent miscarriage.
In vitro fertilization (IVF) is a type of reproductive technology used to help couples struggling with infertility. IVF involves the fertilization of an egg outside the body and the subsequent transfer of the embryo into the uterus. IVF can be challenging for people with thrombophilia because the hormonal stimulation used during IVF can increase the risk of blood clotting. In addition, pregnancy itself increases the risk of clotting, so people with thrombophilia who undergo IVF may be at even greater risk of developing complications.
For the detection and identification of mutations associated with thrombophilia, real time PCR tests are the most effective. PCR stands for polymerase chain reaction, which is a laboratory technique used to amplify DNA sequences.
PCR testing can be used to identify mutations in genes such as Factor V Leiden, Prothrombin G20210A, and MTHFR. These genetic mutations can increase the risk of thrombophilia, while PCR testing can help identify individuals who may be at higher risk of developing thrombophilia.
This information can be used to help treat and prevent complications associated with thrombophilia.
Of which 8 are directly related to the hemostasis process, F2 20210 G>A, F5 1691 A, F7 10976 G>A, F13 Val34Leu, FGB -455 G>A, ITGA2 807 C>T, ITGB3 1565 T>C, PAI-1 -675 4G>5G, and 4 indirectly associated with thrombophilia via folate metabolism, MTHFR 677 C>T, MTHFR 1298 A>C, MR 2756 A>G and MTRR 66 A>G.