Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency has been suggested that coexistence of hereditary homocystinuria and factor V Leiden mutation might jointly play a role in the development of thrombosis. We... S H.,Kalkanoğlu,T.,... - 《Journal...
Coexistence of hereditary homocystinuria and factor V Leiden: effect on thrombosis. N Engl J Med. 1996;334:763-768.Mandel H, Brenner B, Berant M, et al. Coexistence of hereditary homo- cystinuria and factor V Leiden--effect on thrombosis. N Engl J Med. 1996;334: 763-768....
Factor V Leiden, Antithrombin III, Protein C, Protein S, and Protein Z Deficiencies; Prothrombin G20210A Polymorphism; and von Willebrand Factor Hereditary Deficiencies Genetic modifications that affect function or concentration of the regulatory coagulation proteins in the hemostatic pathways are associated...
Factor V deficiency is a rare bleeding disorder with an estimated prevalence of 1 per 1 million live births. The condition is frequently inherited in an autosomal recessive pattern, affecting both sexes equally with nearly 200 confirmed mutations. While no specific ethnicity has been identified as p...
In addition to the genetic variants currently used in clinical assessment of hereditary thrombophilia (e.g., Factor V Leiden, prothrombin mutation) there are other more recently discovered common gene variants that contribute to VTE risk15,16,17. However, even when these are also incorporated into...
Hereditary risk factors • Antithrombin deficiency • Protein C deficiency • Protein S deficiency • Factor V Leiden • Prothrombin G20210A • Dysfibrinogenemia • Non-O blood groups • Sickle cell disease and sickle cell trait ...
When expressed alone in Saos-2 osteosarcoma cells, DEDAF was to some extent cytoplasmic, but the great majority of staining was found in the nucleus, distributed evenly in a fine granular pattern, as seen by fluorescent and confocal microscopy (Figure 4j-k). Occasionally, it was detected in ...
One patient with prenatally diagnosed homocystinuria who was also heterozygous for factor V Leiden has received warfarin therapy since birth and has not had thrombosis (age, 18 months). Of four patients with homocystinuria who did not have factor V Leiden, none had thrombosis (ages at this ...
Factor V Leiden mutation is the most common hereditary thrombophilia associated with PVT and the relative risk of factor V Leiden mutation, as a cause of PVT, was six times more than in controls (odds ratio=6). Concurrence of more than one hereditary thrombophilic factor was seen in 12.5% ...
The coexistence of multiple hereditary and acquired factors eases its occurrence. Women with HAE should be screened for the factor V Leiden mutation before pregnancy or the start of a hormone replacement therapy.Celikel S.DepartmentBuyukasik Y....