Thrombophilia Disease

Hemophilia A is a known X-linked recessive disorder. This condition or bleeding disorder is characterized by a deficiency in the activity of a coagulation factor, which in this case is F8 or coagulation factor VIII. This condition is clinically known to be heterogeneous and its severity depends on the plasma level of the coagulation factor VIII. Varying levels of hemophilia exist which are categorized based on percentage of coagulation factor within blood plasma compared to normal levels.

Venous thrombosis is a multifactorial disease. In the majority of thrombosis patients a risk factor is not detectable. Virchow's triad refers to three primary influences for thrombus formation, endothelial injury, stasis, turbulence or abnormal blood flow, and blood hypercoagulability (Kyrle, 2009). A shift in balance between procoagulant and anticoagulant of the endothelium is responsible for thrombotic state (Kyrle, 2009). Endothelial injury is the physical loss of endothelium leading to exposure of subendothelial extra-cellular matrix, adhesion of platelets, release of tissue factor, depletion of PGI2 and plasminogen activators (Kumar, 2010). Abnormal blood flow refers to turbulence that causes endothelial injury, which is a major influence

Mutations lead to a genetic deficiency in clotting factor VIII, causing increased bleeding and affects males a majority of the time. HA can occur in homozygous females. 5-10% of patients with HA have dysfunctional proteins (factor VII) and 90% to 95% of HA cases are characterized by a quantitative deficiency pf factor VII. Patients usually experience bleeding episodes: the most serious bleeding sites include, joints, muscles, digestive tract, and brain. 30% of cases are caused by new mutations. Medications are prescribed to prevent bleeding episodes and for more severe cases blood coagulate and blood plasma treatments are

Factor V Leiden thrombophilia is a genetic disorder that effects blood clotting. Factor V Leiden is the name of a specific gene mutation that results in thrombophilia,

Von Willebrand Disorder, abbreviated as VWD, is the most common inherited bleeding disorder. Erik von Willebrand, a Finnish scientist, first discovered it in the 1920s. Carried on the twelfth chromosome, von Willebrand causes excessive bleeding (National Hemophilia). Patients with VWD form blood clots slower, resulting in prolonged bleeding. As a lifelong condition without a cure, it can come with serious health hazards. Roughly one percent of the U.S. population, or one out of one hundred to a thousand people, have this ailment. However, other bleeding disorders, such as hemophilia, occur mainly in males, VWD affects both men and women equally. Despite who it affects, the cause behind this disorder lays on the shoulders of one specific gene,

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

We also discussed thrombophilia issues. She essentially has no family history and therefore do not believe that she would require any treatment. In addition, we are uncertain as to why her sister was tested unless it had to do with pregnancy losses. If the patient is concerned about the potential for 4G/4G than at most we would recommend starting low-dose aspirin. She does not have a history that would suggest testing her for all the potential thrombophilias. Regarding the father of the baby, if he is heterozygous there is a 50% chance that the child would be a carrier. If he is homozygous than the child will be a carrier but again it is unlikely that this patient is a carrier for factor V Leiden. Upon completion of the ultrasound evaluation and assessment all of their questions were answered in detail. At this time we have not scheduled her back for a follow-up evaluation

The precursor to thrombin is prothrombin, an inactivated protein produced in the liver. Upon injury prothrombin converts to thrombin with the purpose of catalyzing the conversion of fibrinogen to fibrin. The process changes the blood plasma soluble fibrinogen to fibrin, which is not plasma soluble. In order to do this the interaction removes two peptide chains from the ends of fibrinogen. Once this reaction is complete fibrin will begin to form a blood clot around the site of injury. While the interaction between fibrinogen is important it is not the only major

From its evidential discovery with the Romanov Family to its appearance in the modern era, Hemophilia has become more prominent over time. Hemophilia is an inherited genetic disorder in which certain blood factors do not clot properly. Hemophilia can cause spontaneous bleeding episodes, and there are many ways to treat it.

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

Mutations in this factor lead to Hemophilia B2. Two vectors—AAV-CMV-F.IX and AAV-EIFα-F.IX—were inserted into the muscle, each having a similar role2. Both vectors were responsible for inducing the activity of the coagulation factor IXa, which is absent in patients exhibiting Hemophilia B, and plays a crucial role in blood clotting2. The results of this study showed that while the two vectors played similar roles, there were important distinctions between the two that determined the AAV-CMV-F.IX vector was more useful for XI factor deficiency2. A potential downfall of using AAV was the issue of tumors being caused in animals due to the vectors2. More studies will have to be completed to address this issue

Hemophilia A is the most common clotting disorder which “…accounts for approximately 85% of… [Hemophilia cases].” (Copstead-Kirkhorn, 2012, pp. 304) The cause for this clotting disorder is the deficiency of clotting factor VIII. With this factor lacking, a patient can experience abnormal bleeding accompanied by a prolonged clotting time. This disorder is also classified as X-Linked recessive. Thus, if the father has Hemophilia A and the mother does not, there is a 50% chance that the sons will have the disorder and 50% chance that the daughters will be a carrier of the disorder. It only takes one infected X chromosome to spread

Hemophilia B is a variation of the disease in which the genetic disorder is caused by a missing or defective factor IX, another clotting protein (Hemophilia B). Although it is passed down from parents to children, about 1/3 of the cases are caused by a spontaneous mutation (Hemophilia B). Hemophilia C is another variation of the disease in which the mutation causes a deficiency in factor XI (What Is Factor XI Deficiency?). Hemophilia C differs from Hemophilia A or B in that there is no bleeding into the joints and the muscles (What Is Factor XI Deficiency?). According to World Federation of Hemophilia, factor XI deficiency is the most common of the rare bleeding disorders and the second most common bleeding disorder affecting women (What Is Factor XI

Cancer patients with Factor V Leiden (rs6025), Factor VHR2 haplotype (rs1800595) prothrombin G20210A (rs1799963), PAI-1 4G/5G (rs1799889), MTHFR 677C>T (rs1801133), and factor XIII Val34Leu (rs5985) have a many fold increased risk for developing VTE compared to cancer patients without these hereditary risk factors [15,16]. A potential effect of polymorphisms in clotting factors on cancer risk would be relevant scientifically and clinically and have determining role in management and treatment of such patients. Studies have been undertaken in a number of populations for such risk assessments but no such study has been undertaken in Saudi population till date. With increased burden of Cancer in Saudi Arabia study of risk factors is highly warranted to decrease cancer associated mortality and morbidity and improve the quality of life of such patients. We shall genotype factor V Leiden (FVL), Factor VHR2 haplotype (FVHR2), prothrombin G20210A (PT G20210A), PAI-1 4G/5G, MTHFR 677C>T, and factor XIII Val34Leu (FXIII Val34Leu) in cancer patients and controls to identify these as risk

Human beings contain tens of thousands of genes that decide what characteristic will each person have from the color of their eyes to their risk of contracting various disease. Amazingly, one misplaced gene can change a person life forever. For instance,is a rare bleeding disorder in which the blood doesn't clot normally. Hemophilia is a genetic disease where there is a defect in the series of protein that forms blood clots. The series of proteins is called the coagulation cascade in which each factor activate each other in chain reaction. The last to to activate is factor 10a which in turn activates thrombin. Thrombin is an enzyme that converts fibrinogen to fibrin. The large amounts of fibrin then forms long strands and merges with platelets