Predisposition to thrombosis - expanded (12 mutations)

General information:

An extended full panel of genetic mutations in women with recurrent miscarriage, thrombophilia susceptibility, and impaired folate metabolism (Thrombophilia Susceptibility REAL-TIME PCR Genotyping)
– F2: 20210 G > A factor II Prothrombin
– F5: 1691 G > A factor V Leiden
– F7: 10976 G > A factor VII Proconvertin
– F13: G > T Val35Le
– FGB: 455 G > A – β – fibrinogen
– ITGA2: 807 C > T – integrin – α2
– ITGB3: 1565 T > C – integrin – β3
- PAI-1: 6755G>4G – inhibitor of plasminogen activator

Genetic mutations for folate metabolism (Folate Metabolism REAL-TIME PCR Genotyping):

– MTHFR : 677 C > T – neural tube defect, folic acid exchange
– MTHFR : 1298 A > C – individual response to ovarian stimulation, folate exchange
– MTR : 2756 A > G – neural tube defect, folate exchange
– MTRR : 66 A > G – neural tube defect, vitamin B12 metabolism

Which patients should be screened for hereditary forms of thrombophilia?

- All patients with a history of venous thromboembolism (VTE), regardless of age of primary event (before or after 45 years)

- All women with obstetric complications (other than VTE) in previous and/or current pregnancies;

- Pre-eclampsia, Eclampsia, HELLP-syndrome;

- Intrauterine fetal retardation;

- Abruptio placentae

- History of embryonic (>2 in first trimester) and fetal losses (>1 second or third trimester);

- Stillbirth

- Asymptomatic patients with a family history of VTE in whom the inclusion of oral contraception and hormone replacement therapy is necessary.

Combination of genetic studies in patients with elevated levels of homocysteine, in determining individual risk of thrombosis, young patients with cardiovascular diseases, patients with close relatives with thrombosis, patients with pathological pregnancy.

Mutations in the Factor V Leiden and Prothrombin 20210 genes are associated with increased propensity for thrombosis and embolism. They are themselves factors of the coagulation status and are essential for the body. The reason is that the factor is not inactivated by protein C and differs from normal Factor V by one amino acid in its composition. This is the most common mutation and cause of hereditary thrombophilia.
If a person is a carrier of Factor V Leiden, there is a high risk of: deep vein thrombosis (blood clot in a vessel), pulmonary thromboembolism (thrombus in a pulmonary vessel with high mortality), pregnancy complications (miscarriages, preeclampsia (high blood pressure during pregnancy) , placental abruption.
Therefore, patients with this mutation wishing to become pregnant will require special follow-up.
The second mutation (Factor II; Prothrombin 20210 ) affects prothrombin, which supports the blood clotting process. The mutation causes excessive levels of prothrombin to be produced, leading to an increased tendency to clot. Patients can be homozygous and heterozygous, and the clinical picture is variable. Carriers of the mutation have a times higher risk of developing deep vein thrombosis.
If a patient is a carrier of a defective gene for prothrombin in combination with Factor V Laiden, the risk of thrombotic events is increased by 10-20 times.
The MTHFR gene is responsible for the synthesis of the methylenetetrahydrofolate reductase enzyme. Mutations in this gene cause a number of diseases such as homocystinuria, spina bifida, and anencephaly in the fetus. The enzyme is key in the metabolism of folate, B vitamins, the synthesis of many proteins. Patients with this mutation have a less active enzyme, which is associated with an increased risk of atherosclerosis, vascular problems, heart problems, stroke, several types of cancer, inflammatory bowel diseases.
An association between prothrombin mutations and pregnancy complications, including recurrent miscarriages, has been established

SAMPLE REQUIRED:

Venous blood

Key words:

Thrombosis, diseases