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Factor X deficiency (X as Roman numeral ten) is a bleeding disorder characterized by a lack in the production of factor X (FX), an enzyme protein that causes blood to clot in the coagulation cascade. Produced in the liver FX when activated cleaves prothrombin to generate thrombin in the intrinsic pathway of coagulation.
The result is a Factor VIIa/TF complex, which catalyzes the activation of Factor X and Factor IX. Factor Xa formed on the surface of the TF-bearing cell interacts with Factor Va to form the prothrombinase complex which generates small amounts of thrombin on the surface of TF-bearing cells.
X-linked recessive inheritance. X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity).
The X-chromosome carries a larger number of genes in comparison to the Y-chromosome. In humans, X-chromosome inactivation enables males and females to have an equal expression of the genes on the X-chromosome since females have two X-chromosomes while males have a single X and a Y chromosome. X-chromosome inactivation is random in the somatic ...
Deficiencies of either protein components of the prothrombinase complex are very rare. Factor V deficiency, also called parahemophilia, is a rare autosomal recessive bleeding disorder with an approximate incidence of 1 in 1,000,000. [22] Congenital factor X deficiency is also extremely rare, affecting an estimated 1 in 1,000,000. [23]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, the effect is usually short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD ...
Fibrinogen is a glycoprotein made and secreted into the blood primarily by liver hepatocyte cells. Endothelium cells also make what appears to be small amounts of fibrinogen but this fibrinogen has not been fully characterized; blood platelets and their precursors, bone marrow megakaryocytes, although once thought to make fibrinogen, are now known to take up and store but not make the ...
Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation. [1]Normally when a vascular injury occurs (i.e., a cut, scrape or other injury that causes bleeding), platelets are activated and phosphatidylserine (PS) in the inner leaflet of the platelet membrane is transported to the outer leaflet of the platelet membrane ...