Factor gene and its relationship to blood clotting

Coagulation - Wikipedia

factor gene and its relationship to blood clotting

In acquired thrombophilia the abnormal clotting is usually related to a specific cause, . In this case, the DNA is isolated from blood cells and the factor V gene is. Blood Clots Form Due to Three Risk Factors. Inherited causes of blood clots are related to a genetic tendency for clot formation. People with inherited conditions. Coagulation, also known as clotting, is the process by which blood changes from a liquid to a . The coagulation factors are generally serine proteases (enzymes), which act by .. factor V Leiden, and various other genetic deficiencies or variants). . All mammals have an extremely closely related blood coagulation process.

Prolonged bed rest due to surgery, hospitalization or illness Long periods of sitting such as car or plane trips Use of birth control pills or hormone replacement therapy Cancer Genetic Risk Factors The genetic, or inherited, source of excessive blood clotting is less common and is usually due to genetic defects.

These defects often occur in the proteins needed for blood clotting and can also occur with the substances that delay or dissolve blood clots.

factor gene and its relationship to blood clotting

You're more likely to have a genetic cause of excessive blood clotting if you have: Family members who have had dangerous blood clots A personal history of repeated blood clots before the age of 40 A personal history of unexplained miscarriages Other Risk Factors - Diseases and Conditions Many diseases and conditions can cause excessive blood clotting, or hypercoagulation.

Certain diseases and conditions are more likely to cause clots to form in specific areas of the body. Conditions that can trigger excessive blood clotting in the heart and brain: Atherosclerosis is a disease in which a waxy substance called plaque builds up inside your arteries.

Over time, the plaque may rupture. Platelets clump together to form clots at the site of the damage. Vasculitis is a disorder that causes the body's blood vessels to become inflamed.

Platelets may stick to areas where the blood vessels are damaged and form clots. Diabetes increases the risk of plaque buildup in the arteries, which can cause dangerous blood clots. Nearly 80 percent of people who have diabetes will eventually die of clot-related causes.

What Is Excessive Blood Clotting (Hypercoagulation)?

Heart failure is a condition in which the heart is damaged or weakened. When the heart can't pump enough blood to meet the body's needs, blood flow slows which can cause clots to form.

Blood Clots: A Patient's Journey

Atrial fibrillationthe most common type of arrhythmiaor irregular heartbeat. Atrial fibrillation can cause blood to pool in the upper chambers of the heart and can cause clots to form. Overweight and obesity refer to body weight that's greater than what is considered healthy. These conditions can lead to atherosclerosis, which increases the risk of clots. Metabolic syndrome is the name for a group of risk factors that increases your chance of having heart disease and other health problems, including an increased risk of forming blood clots.

Blood clots can form in the veins deep in the limbs, a condition called deep vein thrombosis or DVT. DVT usually affects the deep veins of the legs. A blood clot in a deep vein can break off and travel through the bloodstream.

factor gene and its relationship to blood clotting

If the clot travels to the lungs and blocks blood flow, the condition is called pulmonary embolism. Peripheral artery disease PAD: A narrowing of the peripheral arteries, most commonly in the arteries of the pelvis and legs.

All three of these conditions are caused by narrowed and blocked arteries in various critical regions of the body. Hardened arteries or atherosclerosis in the coronary artery region, restricts the blood supply to the heart muscle View an illustration of coronary arteries.

factor gene and its relationship to blood clotting

Disease and clinical significance of thrombosis[ edit ] The best-known coagulation factor disorders are the hemophilias. Hemophilia A and B are X-linked recessive disorders, whereas Hemophilia C is a much more rare autosomal recessive disorder most commonly seen in Ashkenazi Jews.

Von Willebrand disease which behaves more like a platelet disorder except in severe casesis the most common hereditary bleeding disorder and is characterized as being inherited autosomal recessive or dominant. This binding helps mediate the activation of platelets and formation of primary hemostasis.

Bernard-Soulier syndrome is a defect or deficiency in GPIb. GPIb, the receptor for vWF, can be defective and lead to lack of primary clot formation primary hemostasis and increased bleeding tendency. This is an autosomal recessive inherited disorder.

Inherited Causes of Blood Clots | Indiana Hemophilia & Thrombosis Center

Thrombasthenia of Glanzmann and Naegeli Glanzmann thrombasthenia is extremely rare. In liver failure acute and chronic formsthere is insufficient production of coagulation factors by the liver; this may increase bleeding risk. Deficiency of Vitamin K may also contribute to bleeding disorders because clotting factor maturation depends on Vitamin K.

Thrombosis is the pathological development of blood clots. These clots may break free and become mobile, forming an embolus or grow to such a size that occludes the vessel in which it developed.

An embolism is said to occur when the thrombus blood clot becomes a mobile embolus and migrates to another part of the body, interfering with blood circulation and hence impairing organ function downstream of the occlusion. This causes ischemia and often leads to ischemic necrosis of tissue. Most cases of venous thrombosis are due to acquired states older age, surgery, cancer, immobility or inherited thrombophilias e.

Mutations in factor XII have been associated with an asymptomatic prolongation in the clotting time and possibly a tendency toward thrombophlebitis.

Other mutations have been linked with a rare form of hereditary angioedema type III essentialism. Procoagulants[ edit ] The use of adsorbent chemicals, such as zeolitesand other hemostatic agents are also used for sealing severe injuries quickly such as in traumatic bleeding secondary to gunshot wounds.

  • Coagulation
  • Understand Your Risk for Excessive Blood Clotting

Thrombin and fibrin glue are used surgically to treat bleeding and to thrombose aneurysms. Desmopressin is used to improve platelet function by activating arginine vasopressin receptor 1A.

Coagulation factor concentrates are used to treat hemophiliato reverse the effects of anticoagulants, and to treat bleeding in patients with impaired coagulation factor synthesis or increased consumption. Prothrombin complex concentratecryoprecipitate and fresh frozen plasma are commonly used coagulation factor products. Recombinant activated human factor VII is increasingly popular in the treatment of major bleeding.

Tranexamic acid and aminocaproic acid inhibit fibrinolysis, and lead to a de facto reduced bleeding rate. Before its withdrawal, aprotinin was used in some forms of major surgery to decrease bleeding risk and need for blood products. Rivaroxaban drug bound to the coagulation factor Xa. The drug prevents this protein from activating the coagulation pathway by inhibiting its enzymatic activity. Antiplatelet drug and Anticoagulant Anticoagulants and anti-platelet agents are amongst the most commonly used medications.

Of the anticoagulants, warfarin and related coumarins and heparin are the most commonly used. A newer class of drugs, the direct thrombin inhibitorsis under development; some members are already in clinical use such as lepirudin. Also under development are other small molecular compounds that interfere directly with the enzymatic action of particular coagulation factors e.