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Human Chr 3. In terms of the cause of protein S deficiency it can be in inherited via autosomal dominance.A mutation in the PROS1 gene triggers the condition. The cytogenetic location of the gene in question is chromosome 3, specifically 3q11.1 [6] [7] Protein S deficiency can also be acquired due to vitamin K deficiency, treatment with warfarin, liver disease, kidney disease, chemotherapy ...
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. The gene that codes the protein is referred to as F5.
14067 Ensembl ENSG00000198734 ENSMUSG00000026579 UniProt P12259 O88783 RefSeq (mRNA) NM_000130 NM_007976 RefSeq (protein) NP_000121 NP_032002 Location (UCSC) Chr 1: 169.51 – 169.59 Mb Chr 1: 163.98 – 164.05 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor V (Factor V), also less commonly known as proaccelerin or labile factor, is a protein involved in ...
There have also been cases in patients with other deficiency, including protein S deficiency, [6] [7] activated protein C resistance (Factor V Leiden) [8] and antithrombin III deficiency. [ 9 ] Although the above hypothesis is the most commonly accepted, others believe that it is a hypersensitivity reaction or a direct toxic effect.
The exact prevalence of protein S deficiency in the population is unknown; it is found 1.3–5% of people with thrombosis. [14] The minor ("type 2") thrombophilias are much more common. Factor V Leiden is present in 5% of the population of Northern European descent, but much rarer in those of Asian or African extraction.
Congenital factor X deficiency is also extremely rare, affecting an estimated 1 in 1,000,000. [23] A point mutation in the gene encoding factor V can lead to a hypercoagulability disorder called factor V Leiden. In factor V Leiden, a G1691A nucleotide replacement results in an R506Q amino acid mutation.
Fresh normal plasma has all the blood coagulation factors with normal levels. If the problem is a simple factor deficiency, mixing the patient plasma 1:1 with plasma that contains 100% of the normal factor level results in a level ≥50% in the mixture (say the patient has an activity of 0%; the average of 100% + 0% = 50%). [3]
The last category, alterations in the constitution of blood, [6] has numerous possible risk factors such as hyperviscosity, coagulation factor V Leiden mutation, coagulation factor II G2021A mutation, deficiency of antithrombin III, protein C or S deficiency, nephrotic syndrome, changes after severe trauma or burn, cancer, late pregnancy and ...