Thrombophilia mutations

The most common mutations in hereditary thrombophilia concern:

  1. R506Q in blood coagulation factor V (FV-Leiden)
  2. I1299R in blood coagulation factor V (FV-HR2)
  3. G20210A in prothrombin gene
  4. A1298C and C677T in MTHFR gene
  5. 4G/5G polymorfism in PAI-1 gene
  6. V34L in Factor VIII
  7. -455 G> A in β-fibrinogen gene
  8. L33P polymorfism in glycoprotein GPIII (HPA1 a/b)
  9. Ins / Del polymorfism in angiotensin gene (ACE)
  10. R3500Q in apolipoprotein B (ApoB)
  11. E1, E2, E3, E4 genotypes apolipoprotein E (ApoE)

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