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Thrombophilia

In which cases is genetic testing for inherited thrombophilia recommended?

Doctors will recommend this test in the following cases:

  • If you have had thrombosis several times;
  • If thrombosis occurred before the age of fifty;
  • If thrombosis occurred before the age of fifty;
  • Regardless of your age, if thrombosis has occurred for no apparent reason (surgery, a longer period of immobilization);
  • If thrombosis occurs in unusual places (cerebral or mesenteric thrombosis;
  • Port or hepatic vein thrombosis); – Patients with thrombosis during or shortly after pregnancy;
  • Women who have had thrombosis after using oral contraceptives or hormone therapy;
  • Women with clinically unexplained pregnancy loss in the second or third trimester; – Persons who have relatives with confirmed mutations in these genes studied.

What genetic tests for thrombophilia are performed at AVICENAKS?

Our laboratory identifies the presence and number of copies (one heterozygous, two homozygous copies), the following mutations, and high-risk variants in the genes that are associated with thrombophilia:

– Factor V (Factor 5) – Free Mutation (R506Q)

This mutation is present in one copy in 3-8% of all people, while both copies of genes are affected by this mutation in 1 in 5000 individuals. The Leiden mutation in one copy increases the chance of a thrombus appearing tenfold, while the presence of mutations in both copies increases the risk of thrombosis eighty-fold.

– Factor II (factor 2 prothrombin) – mutation 20210 G> A.

The presence of these mutations in a copy of Factor II increases the level of prothrombin in the blood, resulting in a risk of developing thrombosis 2 to 4 times. About 3% of people have this mutation.

– MTHFR (urethrasemethylene tetrahydrofolate) – C677T

The enzyme determined by this genome is crucial for the translation of homocysteine ​​into methionine. The C677T mutation in this gene reduces the activity of the enzyme, resulting in excessive accumulation of homocysteine- hyperhomocysteinemia, especially in people containing reduced amounts of vitamin B6, folic acid (Vitamin B9) and Vitamin B12.
Hyperhomocysteinemia is an important risk factor for the occurrence of thrombosis, coronary artery disease, nerve cell defect, fetal loss, etc.

– MTHFR (urethrasemethylene tetrahydrofolate) – A1298C

Another common variant of this gene also increases the risk of increased homocysteine ​​in the blood, although its effect is somewhat smaller than that of the C677T variant.

– Antithrombin III (SERPINC1 gene) – G786A

This high-risk variant is present in about 10% of people and increases the risk of venous thrombosis by about 20-40%.