Thrombophilia is a condition characterized by an increased tendency to form blood clots (thrombosis). When a clot forms inside a blood vessel, it can obstruct normal blood flow and lead to serious health complications.
Thrombophilia can be hereditary (genetic) or acquired, and in certain individuals, it increases the risk of deep vein thrombosis, pulmonary embolism, pregnancy complications, and problems during the in vitro fertilization (IVF) process.
Modern genetic testing for thrombophilia using the PCR Real Time method is available at Natal Polyclinic, allowing for precise analysis of mutations associated with coagulation disorders.
What is Thrombophilia?
In people with thrombophilia, the blood has an increased tendency to clot. This does not mean that every person will develop thrombosis, but it does mean there is a higher risk in certain situations, such as:
Genetic Causes of Thrombophilia
The most well-known hereditary mutations associated with thrombophilia are:
The presence of these genetic variants can increase the risk of blood clot formation, especially when additional risk factors are present.
Thrombophilia and Pregnancy
Thrombophilia can be significant in planning and managing pregnancy, as it increases the risk of complications in certain women, such as:
For this reason, additional diagnostics are often recommended for women with reproductive issues.
Thrombophilia and In Vitro Fertilization (IVF)
For women planning an In vitro fertilisation procedure, thrombophilia testing can be useful, especially in cases of:
Hormonal stimulation and pregnancy itself can further increase the risk of thrombosis in predisposed individuals.
Why is PCR Real Time Testing Performed?
The PCR Real Time method represents the modern standard of genetic laboratory diagnostics because it provides:
Thrombofolate Panel at Natal Polyclinic
A 12-gene thrombofolate panel is available at Natal Polyclinic, covering mutations associated with hemostasis and folate metabolism.
Genes directly associated with the hemostasis process:
Genes associated with folate metabolism:
When is Thrombophilia Testing Recommended?
Genetic testing for thrombophilia is most commonly recommended for individuals who have:
Why is Early Diagnosis Important?
Timely detection of genetic predisposition can help in pregnancy planning, prevention of complications, and making therapeutic decisions in consultation with a physician.
