Molecular diagnostics has added a new dimension to the evaluation of clotting and bleeding disorders. Genetic predisposition and evaluation have long been established for bleeding disorders, including vWD and haemophilia.
Molecular diagnostics plays an important role in the clinical management and prenatal prediction of inherited bleeding disorders. Detection of inherited thrombophilia, such as Factor V Leiden (FVL) mutation, Prothrombin 20210A mutation,
Protein C & S deficiencies, and anti-thrombin in some VTE cases by DNA-based testing is also commonly available. Routinely performed analyses include PCR and RT-PCR. Next-generation sequencing has been used lately with the multiple-gene ThromboGenomics platform to evaluate patients with coagulation or platelet disorders and some patients with thrombosis. Several large genome-wide association studies have also identified SNPs associated with venous thromboembolism. This presentation will briefly introduce the well-established molecular systems underpinning various thrombotic and bleeding disorders. Since most studies have been conducted on Caucasians, the reported incidence of these conditions is much higher in that population. Recent advances in India suggest that mutations such as FVL are not uncommon, and haemophilia is well documented there. Limited small cohort studies show that APC resistance, followed by PS, PC, and AT deficiency, is the most common in Indian women presenting with recurrent pregnancy loss. The material presented here was sourced from current Australian diagnostic guidelines, PubMed, and Google Scholar searches, with an emphasis on Indian publications on the genetic aspects of thrombosis and haemostasis. The seminar will conclude with an interesting multifactorial case study suggestive of lupus-induced recurrent pregnancy loss (RPL), which queries possible involvement of Factor V Leiden or other genetic aberrations. Thrombophilia in pregnancy, a hypercoagulable state, impairs blood flow in the maternal veins, leading to DVT and clots in the placental blood vessels, which can result in foetal growth restriction and RPL.
未開始需要報名
活動詳情
日期
10/02/2026
時間 (HKT)
19:00 - 20:00(60分鐘)
主辦方
Hong Kong Society for Molecular Diagnostic Sciences Ltd.