Detection of Inherited Thrombophilic Mutations in Jordanian Children Suffering from Thrombotic Events.

Inherited thrombophilia is a coagulation condition that is linked to increased risk of thrombosis. This study investigates the prevalence of FV Leiden (G1691A), FV H1299R (HR2), FV Y1702C, MTHFR C677T, MTHFR A1298C, FII G20210A and PAI-1 mutations among children with thrombotic events. This single-center study included 60 Jordanian children of both sexes (4 days-18 years) admitted to hospital and diagnosed with thrombotic event of any type. The control group consisted of 50 healthy subjects. The presence of thrombophilic mutations was detected using polymerase chain reaction strip assay. The majority of thrombotic events (38.3%) were reported in children at school age (6-12 years) and in adolescents (26.7%) (13-18 years). The most common thrombotic events were deep vein thrombosis (35%) followed by cerebrovascular accidents (18.3%) and cerebral vein sinus thrombosis (16.6%). The most common thrombophilic mutations among children diagnosed with thrombotic events were PAI-1(4G/5G), MTHFR A1298C, MTHFR C677T and FV Leiden (G1691A) constituting 63.3%, 56.7%, 48.3%, and 41.7%, respectively. A statistically significant difference in the occurrence of mutations between the control group and children with thrombotic events was found only in FV Leiden (G1691A), MTHFR A1298C and FV H1299R. This study revealed that neither children with thrombotic events nor subjects in the control group carried the FV Y1702C mutation. In conclusion, the presence of FV Leiden (G1691A), MTHFR A1298C and FV H1299R mutations may be considered as a risk factor for thrombosis in children. Genetic testing of children with family history could play an important role in detecting high-risk subjects. [ABSTRACT FROM AUTHOR]