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Increased production of prothrombin heightens the risk of blood clotting. Moreover, individuals who carry the mutation can pass it on to their offspring. [8] The mutation increases the risk of developing deep vein thrombosis, [9] which can cause pain and swelling, and sometimes post-thrombotic syndrome, ulcers, or pulmonary embolism. [10]
Pathophysiology of factor V Leiden gene mutation. Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C.
They are relatively mild in the usual heterozygous state, and are therefore classified as "type II" defects. [14] [15] The most common ones are factor V Leiden (a mutation in the F5 gene at position 1691) and prothrombin G20210A, a mutation in prothrombin (at position 20210 in the 3' untranslated region of the gene).
Specifically, Factor Xa cleaves prothrombin in two locations, following Arg 271 and Arg 320 in human prothrombin. [1] Because there are two cleavage events, prothrombin activation can proceed by two pathways. In one pathway, prothrombin is first cleaved at Arg 271. This cleavage produces Fragment 1•2, comprising the first 271 residues, and ...
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be ...
Hypoprothrombinemia can be the result of a genetic defect, may be acquired as the result of another disease process, or may be an adverse effect of medication.For example, 5-10% of patients with systemic lupus erythematosus exhibit acquired hypoprothrombinemia due to the presence of autoantibodies which bind to prothrombin and remove it from the bloodstream (lupus anticoagulant ...
An Alabama woman "is recuperating well" after undergoing a pig kidney transplant in New York City, per reports. Towana Looney, 53, underwent surgery using the organ from a genetically manipulated ...
Hyperprothrombinemia is a state of high of prothrombin levels in the blood [1] which leads to hypercoagulability. An example of a genetic cause includes the mutation prothrombin G20210A. [2] Hyperprothrombinemia is a risk factor for venous thromboembolism. [2]