Hemophilia
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What is hemophilia?
Hemophilia is a bleeding disorder that slows the clotting process. People with the condition often experience prolonged bleeding following injury or surgery and, in severe cases, spontaneous bleeding into joints and muscles. Hemophilia occurs more commonly in males than in females.
Types of this condition include hemophilia A (also known as classic hemophilia) and hemophilia B (also known as Christmas disease). The two types are caused by mutations in different genes.
How common is hemophilia?
Hemophilia A is the most common type of this condition, affecting 1 in 5,000 to 10,000 males worldwide. Hemophilia B is less common; it affects 1 in 20,000 to 34,500 males worldwide.
What genes are related to hemophilia?
Mutations in the F8 and F9 genes cause hemophilia.
Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene cause hemophilia B. The proteins made by these genes play a critical role in the process of blood clotting. Mutations in either gene prevent clots from forming in response to injury, leading to excessive bleeding that can be difficult to control.
How do people inherit hemophilia?
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Source: National Institutes of Health
Recent findings in drug development described by researchers from University of Florida, Department of Pediatrics
2009 AUG 17 - (NewsRx.com) -- Data detailed in 'Role of regulatory T cells in tolerance to coagulation factors' have been presented. "The immune response to coagulation factors VIII or IX, in particular formation of inhibitory antibodies, complicates treatment of hemophilia. Therefore, a number of recent studies in animal models have explored novel approaches toward induction of immune tolerance in protein or gene replacement therapy," researchers in the United States report. "Strong evidence has emerged that regulatory T cells (Treg) are an important component of the mechanism by which tolerance is maintained and inhibitor formation, a T help dependent response, is prevented. Limited data in patients also support this concept. In particular, CD4+ CD25+ FoxP3+ Treg, whether naturally occurring or induced, have been invoked in suppression of antibody and of cytotoxic T lymphocyte responses to the therapeutic clotting factor," wrote O. Cao and colleagues, University of Florida, Department of Pediatrics. The researchers concluded: "This review summarizes the data on this emerging concept of Treg-mediated regulation of the immune response in treatment of hemophilia, strategies and mechanisms of Treg induction and function, and the implications for development of immune tolerance protocols." Cao and colleagues published their study in the Journal of Thrombosis and Haemostasis (Role of regulatory T cells in tolerance to coagulation factors. Journal of Thrombosis and Haemostasis, 2009;7 Suppl 1():88-91). For additional information, contact O. Cao, University of Florida, Dept. of Pediatrics, Gainesville, FL 32610 USA.. Publisher contact information for the Journal of Thrombosis and Haemostasis is: Blackwell Publishing Inc., 350 Main St., Malden, MA 02148, USA. Keywords: United States, Gainesville, Angiology, Drug Development, Haemostasis, Hemophilia A, Pediatric, Pharmaceuticals, Therapy, Thrombosis, Treatment. This article was prepared by Biotech Business Week editors from staff and other reports. Copyright 2009, Biotech Business Week via NewsRx.com.
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