Baxter Healthcare Corporation Coagulation Factor 9

Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those

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:

Since hemophilia involves excessive bleeding, it is important to treat right away. The main method of treatment is known as “replacement therapy.” Depending on the type of hemophilia one has (A or B), either coagulation factor VIII or IX would be dripped into the vein to replace deficient or mutated factors. These

Currently there is no cure for hemophilia. But with clotting factor infusions and inclusion in support groups, most patients live full and relatively healthy lives. Scientist are always looking for a new cure according to La Kelley Communications (LA Kelley Communications, n.d), and they believe the answer lies in gene therapy. Potential treatment includes taking genes with the correct directions for making clotting factors and inserting them into the cells of a person with hemophilia. Scientists believe the new gene will give the correct directions to the body to start producing high levels of clotting factors, causing the person with hemophilia to develop successful blood

Hemophilia is a rare blood condition in which an individual’s blood cannot clot appropriately to stop bleeding. There are two types of Hemophilia, Hemophilia A and Hemophilia B. This paper will be focusing on Hemophilia A, also known as classic hemophilia. “Hemophilia A is a genetic disorder caused by a missing or defective factor VIII, a clotting protein” (National Hemophilia Foundation, n.d., para. 1). Clotting proteins work with cell fragments called platelets to stop bleeding. “When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding (National Heart, Lung, and Blood Institute, 2013, para.

Efficient inhibition of the fibrin deposition and thrombus formation by plasma protease FXIIa-neutralizing antibody, 3F7, by binding specifically to the enzymatic pocket of FXIIa in an extracorporeal membrane oxygenation (ECMO) system similar to heparin but without treatment associated increase in hemorrhage signifies thromboprotective properties of 3F7. Further, inhibition of the thrombus formation without impairing the hemostasis indicates FXII as a potential target for prevention of atherothrombosis. The use of ECMO simulating the clinical settings signifies the meaningful importance of this study to use in clinics. However, the prevention of the contact-induced FXIIa formation, thrombus formation in mice and rabbits and coagulation in-vitro with 3F7 has also been documented [59,60,61] (Figure 2). FXII activation is also mediated by inorganic polymer polyphosphate (polyP), which is stored in platelets and secreted on platelet activation [36]. Reduced fibrin accumulation and attenuated thrombus formation without increased risk

Blood is essential to human life. It carries oxygen, nutrients and hormones all through your body with a strong pump from the heart. Steven’s inability to stop bleeding could be detrimental to his health. There are many bleeding disorders existing today but the main, most common ones are limited to hemophilia A, hemophilia B, and von Willebrand disease. Von Willebrand disease is carried on chromosome 12 and occurs equally in men and women, unlike hemophilia which is an x linked disorder typically affecting males more often. There are many other rare forms of hemophilia with deficiencies in clotting factor 1, 2, 5, 7, 10, 11, 12, and 13 but type A and B specifically involve defective genes relating to factor 8 and 9, respectively. Through the

      The treatment for bleeding episodes includes the replacements of the missing protein or factor. Most patients who been diagnosed with hemophilia are given the particular factor into a vein. For example if you have hemophilia A, you would receive a infusion of a medication called Factor VIII. This would increase the FVIII activity in your body and allow the clot to form and healing to begin. If you have hemophilia B, you would receive and infusion of Factor IX

This is because of the use of the intravenous infusion of factor VIII concentrate, home infusion programs, prophylactic treatment, and improved patient education.

Genetic therapy is a huge part towards bleeding disorders. Researchers claim that gene therapy is the next step to finding a permanent cure to this disorder. Research for improving coagulation factor levels is ongoing. Many patients with hemophilia are a bit worried with being a part of clinical trials involving new concentrates, especially in the United States. With new technology and new changes, it does bring some sort of uncertainty whether this can really work or how it can affect the patient in the long run (Ward et al, 2016). There have been cases where a man tried putting himself in a clinical trial, but later died due to complications. Like with any disease, one patient with hemophilia has a different case compared to another patient. So researchers are working on treating each patient individually, because some patients need more infusions of the coagulation factor compared to others, depending on their deficiency. Researchers have also found that “longer-acting products” should be used in clinical trials. These products which are essentially new factor concentrates can benefit children who are young, patients with phobias of needles, and those who exercise on a regular basis. Of course, this won’t benefit the entire hemophilia community, for example, those who have a mild severity of hemophilia, but it is definitely a step forward (Giangrande, 2016). It still remains unclear

Rivaroxaban is a factor Xa inhibitor that may be useful as a treatment for deep-vein thrombosis without the need monitoring that vitamin K antagonists like warfarin require. Standard treatment for acute deep-vein thrombosis consists of initial parenteral heparin with co-administration and followed use of vitamin K antagonists. However, vitamin K antagonists need to be monitored due to a high risk of bleeding.

Definition Haemophilia and Genetic basis: Haemophilia is a bleeding disorder where the person’s blood clots ineffectively causing spontaneous or injury induced unnaturally rapid internal and external bleeds. This is a result of a severe lack of various clotting factors, depending on type, in the blood. A clotting factor is a protein in blood that controls bleeding. Haemophilia is described as being of sex-linked inheritance and is passed down through the family genes. There are three types of Haemophilia; Haemophilia A, B and C. Haemophilia A is the most common type and caused when there is a reduction in clotting factor VIII in the blood. Haemophilia B is caused by factor IX. Although they are cause by different clotting factor deficiencies

Coagulation is a natural physiological process and is required for the normal functioning of the body. At sites where there is injury to the blood vessels, blood clots are formed as a result of activation of coagulation pathway. Platelets are attracted to the site of injury and a network of tissues is formed. It gets dissolved as the wound heals. However, if the clotting plug increases in size and does not dissolve, there are chances of thrombotic episodes. LMWH are modulators of the coagulation pathway. Enoxaparin is a LMWH, hance, used to treat patients with myocardial infarction or related thrombotic disorders. An effective dose of the drug need to be provided to the patient. ‘Therapeutic dosing period’ is the time period calculated on a

Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.