Two-Step Genetic Screening of Thrombophilia by Pyrosequencing

Thrombophilia Screening.

Although controversial, screening for thrombophilia has become common. Testing for antiphospholipid antibodies is indicated in order to guide treatment decisions if there is clinical suspicion for antiphospholipid syndrome. The utility of identifying other thrombophilias in symptomatic venous thromboembolism (VTE) is questionable, as the risk of recurrence does not appear to be increased by an ...

step by step progress towards genetic knowledge of prostate cancer

Thrombophilia screening: whom to test?

In this issue of Blood, Holzhauer et al have determined a novel method of identifying patients with protein C, protein S, and antithrombin deficiency who are at increased risk of developing venous thromboembolism (VTE; see figure). Children with VTE and their relatives were screened for inherited thrombophilia including proteins C and S and antithrombin deficiency; and Factor (F)V G1691A and FI...

Potential prevention of thromboembolism by genetic counseling and testing for two common thrombophilia mutations.

BACKGROUND/AIM Thrombophilia is a multifactorial predisposition for thromboembolism affecting about a tenth of any population. We investigated whether genetic counseling combined with molecular testing for two common dominant mutations (coagulation factor V Leiden and prothrombin G20210A) may increase prevention of venous thromboembolic incidents in individuals with a positive family history co...

Thrombophilia screening: a matter of debate.

In the last ten years, several risk factors that increase the risk of venous thrombosis have been discovered. Venous thrombosis is a multicausal disease in which several risk factors, both genetic and acquired, have to occur simultaneously to cause thrombosis. This means that most individuals with single thrombophilia are asymptomatic. Although testing thrombosis patients and their relatives fo...