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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.
Inborn deficiency of factor X is very rare (1:1,000,000), and may present with epistaxis (nosebleeds), hemarthrosis (bleeding into joints) and gastrointestinal blood loss. . Apart from congenital deficiency, low factor X levels may occur occasionally in a number of disease stat
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 ...
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]
Haemophilia A is a recessive X-linked genetic disorder resulting in a deficiency of functional clotting Factor VIII. [41] Haemophilia B is also a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX. [44] Haemophilia C is an autosomal genetic disorder involving a lack of functional clotting Factor XI.
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is 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-deficient ...
In human, the F8 gene is located on the X chromosome at position q28. Factor VIII was first characterized in 1984 by scientists at Genentech. [13] The gene for factor VIII is located on the X chromosome (Xq28). The gene for factor VIII presents an interesting primary structure, as another gene is embedded in one of its introns. [14]
X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells. In the absence of T cell help, B cells become defective. [1] It is an X-linked recessive inheritance trait, stemming from a mutated (abnormal) version of the IL2RG gene located on the X-chromosome.