The genetic factors of hereditary thrombophilia and their implication in spontaneous abortion

Abstract

Thrombophilia is an abnormality of blood coagulation which correlates with a hypercoaguable state. Hereditary thrombophilia is a genetic disorder with heterogeneous etiology, produced by mutations described in almost all coagulation factors. The hereditary transmission is autosomal dominant in most cases with variable penetrance. The combination of polymorphisms in the involved genes in the coagulation process is a high risk factor for the clinical manifestations of thrombophilia. The clinical consequences of hereditary thrombophilia (cardiovascular and cerebral thrombosis, spontaneous abortion, preeclampsia, abruptio placentae, intrauterine growth retardation) are correlated in a manner not yet fully known to the type and number of mutations.