Background: Thrombophilia are hereditary or acquired
conditions which can increase the risk of venous or arterial
thrombosis. As the etiology of thrombosis is multifactorial, the
presence of a thrombophilia defect is only one of many elements
that determine risk. Therefore, the utility of testing for
thrombophilia to inform prevention and treatment decisions- is
controversial. The aim of this work was to study epidemiological
aspects and genetic mutation of inherited thrombophilia in
Egyptian patients. Methods: The present study represents a case
control study and was approved by the ethics committee on
research involving human subjects of Benha Faculty of
Medicine. Written informed consents were obtained from all
participants. It was conducted on 64 cases with unexplained deep
venous thrombosis, any site all over the body, with age ranged
from 16 to 40 years. Fifty-nine points, four percent of them- were
males, and forty point six percent- were females. Results: Of all
these defects in 56 cases of our study; MTHFR C677T mutation
was the most frequent defect, then MTHFR A1298C, FVL, FXIII
V34L, beta fibrinogen and prothrombin G21211. Conclusion:
We found that MTHFR C677T mutation is important risk factor
for thrombosis in Egyptian patients. The presence of this
polymorphism can increase the risk of thrombosis. Patients with
thrombosis- at any site of their body- have a significantly higher
prevalence of MTHFR C677T mutation, FVL, FXIII V34L, beta
fibrinogen and prothrombin G21211, compared to healthy
controls. Of all these defects; MTHFR C677T mutation was the
most frequent defect |
