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  • autosomal
  • Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. (readbyqxmd.com)
  • Congenital factor V deficiency, sometimes referred to as parahemophilia, is rare (less than one case per million individuals) and is inherited as an autosomal recessive trait. (labcorp.com)
  • clots
  • In early purpura fulminans, lesion progression correlates with the histological appearance of blockage of small skin blood vessels with blood clots causing capillary dilation and congestion with red blood cells. (wikipedia.org)
  • Since blood clots can not be formed, minor injuries tend to lead to excessive bleeding or bruising. (wikipedia.org)
  • Blood coagulation disorders are genetic disorders that result in either hypercoagulability (where the blood clots too easily) or excessive bleeding. (dmoztools.net)
  • FXII appears to be not essential for blood clotting, as individuals with this condition are usually asymptomatic and form blood clots in vivo. (wikipedia.org)
  • A rarer form of TTP, called Upshaw-Schulman syndrome, or "Inherited TTP," results from an autosomal recessive gene that leads to ADAMTS13 dysfunction from the time of birth, resulting in persisting large vWF multimers, which in turn results in the formation of thrombi (small platelet clots). (wikipedia.org)
  • Red blood cells passing the microscopic clots are subjected to shear stress, which damages their membranes, leading to rupture of red blood cells within blood vessels, which in turn leads to anaemia and schistocyte formation. (wikipedia.org)
  • These platelet-vWF complexes form small blood clots which circulate in the blood vessels and cause shearing of red blood cells, resulting in their rupture. (wikipedia.org)
  • Anticoagulants: Warfarin Overdose: Used as a treatment for prevention of blood clots, however, like most drugs, side effects have been shown to increase risk of excessive bleeding by functioning in the disruption of hepatic synthesis of coagulation factors II, VII, IX, and X. Vitamin K is an antagonist to warfarin drug, reversing its activity, causing it to be less effective in the process of blood clotting. (wikipedia.org)
  • Genetic
  • Message board and chat room for people diagnosed with the Factor V Leiden genetic disorder. (dmoztools.net)
  • Individuals can get genetic testing done to see if they are a carrier of the trait, and if so may choose to complete genetic counseling to better understand the disorder and help manage family planning. (wikipedia.org)
  • Parents can choose to do prenatal genetic testing for the disorder to determine if their child will have the disease. (wikipedia.org)
  • citation needed] A study published in 2009 identified the blood disease affecting the royal families of Great Britain, Germany, Russia and Spain as haemophilia B on the basis of genetic markers. (wikipedia.org)
  • thrombin
  • When a problem of fibrinogen is suspected, the following tests can be ordered: PT PTT Fibrinogen level in blood (total and clottable) Reptilase time Thrombin time Blood fibrinogen levels of less than 0.1 g/L and prolonged bleeding test times are indicators of an individual having afibrinogenemia. (wikipedia.org)
  • liver
  • FIX is synthesized in the liver and circulates in the blood as a proenzyme. (clinicaltrials.gov)
  • Subjects with adequate complete blood counts and liver function tests. (clinicaltrials.gov)
  • The primary study tools will consist of annual history/physical examination and blood tests, as well as periodic liver ultrasound, to characterize clinical outcomes. (clinicaltrials.gov)
  • The long-term follow-up (LTFU) study will consist primarily of endpoints including annual history, physical examination, blood tests, urinalysis, and periodic liver ultrasound. (clinicaltrials.gov)
  • and c) acquired hypofibrinogenemia, a non-hereditary disorder in which blood fibrinogen levels are low because of e.g. severe liver disease or because of excessive fibrinogen consumption resulting from, e.g. disseminated intravascular coagulation. (wikipedia.org)
  • In these instances, the un-mutated gene maintains blood fibrinogen at reduce levels but the mutated gene produces a fibrinogen that accumulates in liver cells sometimes to such extents that it becomes toxic. (wikipedia.org)
  • The acquired form of FXII deficiency is seen in patients with the nephrotic syndrome, liver disease, sepsis and shock, disseminated intravascular coagulation, and other diseases. (wikipedia.org)
  • Hypoprothrombinemia is a rare blood disorder in which a deficiency in immunoreactive prothrombin (Factor II), produced in the liver, results in an impaired blood clotting reaction, leading to an increased physiological risk for spontaneous bleeding. (wikipedia.org)
  • Specific cases include: Vitamin-K Deficiency: In the liver, vitamin K plays an important role in the synthesis of coagulation factor II. (wikipedia.org)
  • mutation
  • Congenital hypofibrinogenemia is a rare disorder in which one of the two genes responsible for producing fibrinogen, a critical blood clotting factor, is unable to make a functional fibrinogen glycoprotein because of an inherited mutation. (wikipedia.org)
  • A similar defect in PS translocation has also been demonstrated in Scott syndrome red blood cells and Epstein-Barr virus transformed lymphocytes, suggesting that the defect in Scott syndrome reflects a mutation in a stem cell that affects multiple hematological lineages. (wikipedia.org)
  • typically
  • It is typically subclassified into four distinct fibrinogen disorders: afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. (wikipedia.org)
  • Typically this bleeding disorder manifests itself as a tendency to easy bruising, nose bleeding, heavy and prolonged menstruation and bleeding during pregnancy and childbirth, and excessive bleeding after dental or surgical interventions. (wikipedia.org)
  • While superficial bleeding is troublesome, some of the more serious sites of bleeding are: Joints Muscles Digestive tract Brain Muscle and joint haemorrhages - or haemarthrosis - are indicative of haemophilia, while digestive tract and cerebral haemorrhages are also germane to other coagulation disorders.Though typically not life-threatening, joint bleeding is one of the most serious symptoms of haemophilia. (wikipedia.org)
  • This is typically a symptom of the disorder when severe blood loss occurs. (wikipedia.org)
  • Less severe cases of the disorder typically do not involve spontaneous bleeding. (wikipedia.org)
  • spontaneous
  • Individuals with this disorder are usually less symptomatic than patients with other fibrinogen disorders because their fibrinogen levels are generally sufficient to prevent spontaneous bleeding. (wikipedia.org)
  • In the majority of cases it is inherited as an X-linked recessive trait, though there are cases which arise from spontaneous mutations. (wikipedia.org)
  • pathways
  • In cases of severe sepsis, there is widespread activation of the acute systemic inflammatory response, including activation of the coagulation and complement pathways, as well as endothelial dysfunction. (wikipedia.org)
  • Diseases
  • The concept for the initiative originated in the Blood Resources Working Group of the Blood Diseases and Resources Advisory Committee and was approved by The National Heart, Lung, and Blood, Advisory Council in February 1985. (clinicaltrials.gov)
  • antibodies
  • Current therapy is based on support and plasmapheresis to reduce circulating antibodies against ADAMTS13 and replenish blood levels of the enzyme. (wikipedia.org)
  • Disease
  • The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. (clinicaltrials.gov)
  • When blood in the joint is broken down by enzymes in the body, the bone in that area is also degraded, this exerts a lot of pain upon the person afflicted with the disease. (wikipedia.org)
  • tendency
  • Provides an overview of the acquired or inherited tendency to bleed excessively, and information on the different causes and the tests available for their diagnosis and monitoring. (dmoztools.net)
  • Condition
  • The condition may be inherited or acquired. (wikipedia.org)
  • Blood transfusions may be needed, NSAIDS should be discontinued once the individual has been diagnosed with the condition. (wikipedia.org)
  • This condition is characterized as an autosomal recessive inheritance congenital coagulation disorder affecting 1 per 2,000,000 of the population, worldwide, but is also attributed as acquired. (wikipedia.org)
  • The fact that an affected parent is not always identified for children with NS suggests several possibilities: Manifestations could be so subtle as to go unrecognized (variable expressivity) NS is heterogeneous, comprising more than one similar condition of differing causes, and some of these may not be inherited. (wikipedia.org)
  • defective
  • A person needs to inherit a defective gene from both parents. (wikipedia.org)
  • Scott syndrome, a bleeding disorder caused by defective scrambling of membrane phospholipids. (wikipedia.org)
  • Defective Ca2+ induced microvesiculation and deficient expression of procoagulant activity in erythrocytes from a patient with a bleeding disorder: a study of the red blood cells of Scott syndrome. (wikipedia.org)