It is needed during investigations to determine the cause in cases of venous thromboembolism and recurrent miscarriage, which require clinical investigation of the possibility of thrombophilia.
Prothrombin is the precursor of thrombin, which converts fibrinogen to fibrin. A mutation in the gene encoding prothrombin synthesis causes an increase in the concentration of prothrombin in the circulation and thus an increase in the tendency to thrombosis. Prothrombin gene mutation is an autosomal recessive inherited mutation that occurs as a result of 20210G>A substitution in the prothrombin gene. It is reported that the rate of those who carry this mutation as heterozygous in the European population is around +1-2.
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