According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family
Ragni, Margaret V. "New and Emerging Agents for the Treatment of Hemophilia: Focus on Extended Half-Life Recombinant Clotting Proteins." Springer Link. Springer International Publishing, 27 Aug. 2015. Web. 29 Aug. 2015. .
Venous thrombi, composed predominately of red blood cells but also platelets and leukocytes bound together by fibrin, form in sites of vessel damage and areas of stagnant blood flow such as the valve pockets of the deep veins of
It inhibits thrombosis by inactivating co-factors Va, and VIIIa (Neyrinck, 2009). When deficient, Factor V can cause excessive blood clotting and Factor VIII, being an essential clotting factor, can cause blood to profusely move out of tissues once cut or damaged (Faust, 2001 and Yan, 2001). Thrombin may become limited, one reason being the decrease of plasma D-dimer, which again stimulates fibrinolysis (Bernard, 2001).
There are two types of Hemophilia, type A and type B, Hemophilia A is associated with blood clots after injury or a type of surgery, Hemophilia A is a disease in which a type of protein that is used to stop clotting is changed or mutated. This all starts after the bleeding has begun, little molecules send out a signal for a protein called factor 12 to be activated, then this protein goes on to activate other proteins till the protein Fibrinogen is activated which stops the bleed and forms a stable clot, but, when Hemophilia is brought in, this can cause major problems. It occurs in the factor 8 gene. Hemophilia causes this gene to be mutated, which is located on the X chromosome. The instructions for making the gene are altered which makes the protein changed as well. In a minor case only a small part of
Each treatment should be treated case-by-case to ensure that the patient is receiving the best possible care. Suggested treatments consist of regular infusions of DDAVP and/or clotting factor, first aid for minor cuts, physical therapy, fibrin sealants and clot-preserving medications. For Hemophilia C, clotting factor XI is available only in Europe and in the United States bleeding episodes are treated through plasma infusions. Clotting factor XI is not available in the United States because Factor XI concentrates are blood products with a concentrated form of Factor XI. Meanwhile, available only in certain areas of Europe, these blood concentrates are made through a series combining thousands of different blood donors. Therefore, the United States only keeps frozen plasma instead. Fibrin sealants work by applying the medication directly to the site of the wound, from there the Fibrin promotes clotting and healing. Clot-preserving medications can also be applied directly to the wound. However, this time the medication preserves the clot from breaking down and assists in ending the
Small deletions may remove one or a few base pairs within a gene, while larger deletions can remove an entire gene or several neighboring genes. The deleted DNA may alter the function of the resulting protein(s).” (U.S National Library of Medicine, 2016) The protein associated with the scenario is the factor VIII gene. The factor VIII gene presents instructions for making a protein called coagulation factor VIII. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor (vWF). The active protein interacts with another coagulation factor called Factor IX, and as a result, this interaction releases a chain of chemical reactions that form blood clots. “The altered or missing protein cannot participate effectively in the blood clotting process. As a result, blood clots cannot form properly in response to injury.” (F8, 2016) These issues with blood clotting may lead to serious bleeding which could be difficult to stop. In order for the blood clot to be produced to assist aiding the injury, it is in need of both factors to interact with each other. Having the deletion mutation process taken place, Danielle’s factor VIII gene was removed and as a result, she was found to be a carrier of Haemophilia.
Hemostasis is the process whereby blood coagulates at the site of an injury to a blood vessel. Cellular components involved in hemostasis include platelets, endothelial cells of blood vessels, tissue factor-bearing cells, and coagulation factors (Davoren & Wang, 2014). Coagulation factors are specialized plasma proteins that circulate in the bloodstream in inactive forms. Most coagulation factors are activated by enzymes that catalyze their conversion to active forms. The active forms then contribute to hemostasis. Factors VIII (FVIII) and IX (FIX) are the factors involved in the most common forms of hemophilia. The coagulation cascade has many steps and reciprocal interactions; however, FVIII and FIX are most involved with the following steps:
Venous thrombosis and arterial thrombosis are considered to be distinct pathophysiological processes due to their evident anatomical variances. With one having to deal with platelet activation while the other involving the clotting system activation, arterial thrombosis and venous thrombosis are similar yet vastly different when it comes to the processes that are performed for the body. These same processes that help the body have to be performed accordingly or the signs and symptoms begin to show. For instance, venous thrombosis can lead to Chronic Venous Insuffiency and other issues when a body part is congested. This is most commonly causes by valvular incompetence in the low-pressure superficial venous system; however, it can also be causes
The blood clotting process known as the coagulation cascade is complex and sophisticated which involves a multi-step. The coagulation process does more durable repairs of the vessel and very essential for closing up larger wounds and maintaining the platelet plug which allows for the formation of thrombus, or clot to form. The cascade process of coagulation is chain reaction because one step leads to next events. In each step of cascade produces a new protein of enzymes or catalysts. The Coagulation cascade leads to three different pathway an intrinsic pathway or an extrinsic pathway and at the end both of which lead to a common pathway. There are 12 known clotting factors involved in three different pathway of coagulation cascade including
You mentioned hemophilia so I just wanted to explain what it was. Hemophilia is an inherited disease that affects the clotting process of your blood. Therefore, if you have hemophilia you do stand a chance of sever bleeding if you incur an injury or cut. There is a protein that is called clotting factor that a person might have little or none at all. It is a protein used for blood clotting that helps blood platelets stick together. (NIH
Collagen and von Willebrand factor can initiate coagulation by causing platelet activation which triggers coagulation.
Platelet aggregates and fibrin are components of thrombi that develop on medical devices that are in contact with blood. Therefore, it seems the most obvious solution to use anticoagulants and antiplatelet agents to inhibit or handle clotting. Therefore, it is crucial that haematologists comprehend the mechanisms behind clotting caused by medical devices in contact with blood and how to treat
Hemophilia, also spelled haemophilia, it is a genetic disease, patient lack of coagulation factors inborn, so the function of blood coagulation is impedimental, also it is not easy to stop the bleeding. Normal blood clotting is made of blood platelet and a part of plasma protein. The function that related to plasma protein of coagulation is coagulation factors. The patient’s blood coagulation factors is less than normal people. When the blood vessel burst, blood is not easy to curdle, so it is difficult to stop the bleeding. Since the patient lack of some coagulation factors, When the blood vessel burst, it’s more difficult to coagulate than normal people, so they will lose more blood.
Hemophilia A is a disorder in which the blood doesn’t clot normally due to the lack of blood clothing factor VIII. Hemophilia A is also known as the ‘Classic Hemophilia.’ According to the CDC, hemophilia will occur in approximately 1 in 5,000 live births. It is called classic hemophilia due to the fact that this hemophilia is four times more common as hemophilia B. This disorder is mainly a hereditary bleeding disorder which is caused by an inherited X linked recessive trait. Some acquired forms do exist as well, largely in older patients, due to autoantibodies directed against factor VIII. The defected gene is located on the X chromosome. And it results from a heterogeneous mutation in factor VIII gene that maps for Xq28.