Deficiency of coagulation factor X (Factor X deficiency) - Gen F10.
Factor X deficiency is a disorder of blood clotting, rare, which varies in severity among affected individuals. Signs and symptoms of this disease can begin at any age, but the most severe cases manifest themselves in childhood. Often, factor X deficiency causes nosebleeds, skin bruising, subcutaneous hemorrhages, bleeding gums, hematuria, hemarthrosis, and excessive or prolonged after surgery or trauma bleeding. Women with factor X deficiency may have menorrhagia or excessive bleeding during childbirth, and may have an increased risk of miscarriage. Individuals affected by a severe factor X deficiency have an increased risk of intracranial hemorrhage, pulmonary hemorrhage and bleeding in the gastrointestinal tract, which can be lethal.
This process is due to mutations in F10 gene will, located on the long arm of chromosome 13 (13q34). This gene encodes a protein called Factor X, involved in blood coagulation system. Coagulation factor X encoding mainly in liver cells. The protein circulates in the bloodstream in an inactive form until the coagulation system is activated by an injury that damages the blood vessels. When the Factor X is activated, it interacts with other clotting factors to convert prothrombin protein coagulation, to its active form, thrombin. In turn, thrombin converts fibrinogen to fibrin protein, which is the matrix that generates blood clots.
They have identified at least 130 mutations in the F10 gene result in deficiency of factor X. Some mutations reduce the amount of Factor X in the bloodstream, resulting in a form of the disease called Factor X deficiency type I. Other mutations in the gene encoding F10 alter the protein resulting in a protein factor X with an impaired function, preventing normal blood clotting.
This disease is inherited in an autosomal recessive pattern, that is, both copies of the gene in every cell must have mutations for alteration is expressed. The parents of an individual with an autosomal recessive disease have a copy of the mutated gene, but usually show no signs and symptoms of the disease.
Tests in IVAMI: in IVAMI perform detection of mutations associated with factor X deficiency, by complete PCR amplification of the exons of the F10 gene, and subsequent sequencing.
Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).