Factor VIII: Difference between revisions

Latest revision as of 03:00, 11 December 2024

Factor VIII[edit]

Location of the F8 gene on the X chromosome.

Factor VIII is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, it is encoded by the F8 gene located on the X chromosome. Deficiency or dysfunction of Factor VIII results in hemophilia A, a genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.

Function[edit]

Factor VIII is a glycoprotein that circulates in the bloodstream in an inactive form. It is activated by thrombin during the coagulation cascade. Once activated, Factor VIII acts as a cofactor for Factor IXa, which, in the presence of calcium ions and phospholipids, converts Factor X to the activated form, Factor Xa. This is a crucial step in the coagulation cascade, leading to the formation of a blood clot.

Clinical Use[edit]

Factor VIII concentrates are used in the treatment of hemophilia A. These concentrates can be derived from human plasma or produced using recombinant DNA technology. The administration of Factor VIII is essential for managing bleeding episodes in patients with hemophilia A and for prophylactic treatment to prevent bleeding.

Plasma-Derived Factor VIII[edit]

Plasma-derived Factor VIII is obtained from donated human blood plasma. It undergoes rigorous screening and purification processes to ensure safety and efficacy. However, there is a risk of viral transmission, although this risk has been significantly reduced with modern purification techniques.

Recombinant Factor VIII[edit]

Recombinant Factor VIII is produced using genetically engineered cells that express the F8 gene. This method eliminates the risk of blood-borne pathogens and allows for a consistent supply of the protein. Recombinant Factor VIII is widely used in clinical practice due to its safety profile.

Genetic Aspects[edit]

The F8 gene is located on the X chromosome at Xq28. Mutations in this gene can lead to hemophilia A. Since the gene is located on the X chromosome, hemophilia A is an X-linked recessive disorder, primarily affecting males, while females are typically carriers.

History[edit]

The discovery of Factor VIII and its role in coagulation was a significant milestone in hematology. The development of Factor VIII concentrates revolutionized the treatment of hemophilia A, transforming it from a debilitating condition to a manageable disorder.

Also see[edit]

Template:Blood proteins

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-= Factor VIII: The Anti-Hemophilic Factor Essential for Blood Clotting =
+== Factor VIII ==
-Factor VIII, also known as anti-hemophilic factor (AHF), is a critical blood-clotting protein. Deficiency in this factor leads to hemophilia A, a genetic bleeding disorder. This article provides an in-depth look at Factor VIII, its biological function, its role in disease, and its therapeutic uses.
+[[File:F8 gene location.png|thumb|Location of the F8 gene on the X chromosome.]]
-== Introduction ==
+'''Factor VIII''' is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, it is encoded by the '''F8''' gene located on the X chromosome. Deficiency or dysfunction of Factor VIII results in [[hemophilia A]], a genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
-[[File:Blood clot formation.svg|thumb|The coagulation cascade with Factor VIII playing a crucial role in the process.]]
+== Function ==
+Factor VIII is a glycoprotein that circulates in the bloodstream in an inactive form. It is activated by [[thrombin]] during the coagulation cascade. Once activated, Factor VIII acts as a cofactor for Factor IXa, which, in the presence of calcium ions and phospholipids, converts Factor X to the activated form, Factor Xa. This is a crucial step in the coagulation cascade, leading to the formation of a blood clot.
-Factor VIII is one of the proteins that the body relies on to form blood clots, a process essential for stopping bleeding. It is a key component of the intrinsic pathway of the coagulation cascade.
+== Clinical Use ==
+Factor VIII concentrates are used in the treatment of hemophilia A. These concentrates can be derived from human plasma or produced using recombinant DNA technology. The administration of Factor VIII is essential for managing bleeding episodes in patients with hemophilia A and for prophylactic treatment to prevent bleeding.
-== Biological Function ==
+=== Plasma-Derived Factor VIII ===
+Plasma-derived Factor VIII is obtained from donated human blood plasma. It undergoes rigorous screening and purification processes to ensure safety and efficacy. However, there is a risk of viral transmission, although this risk has been significantly reduced with modern purification techniques.
-Factor VIII is synthesized in the liver and circulates in the bloodstream in an inactive form. Upon vascular injury, it is activated and interacts with Factor IX. This interaction is a pivotal step in the clot formation process, as it leads to the generation of a fibrin clot, which acts as a plug at the site of injury.
+=== Recombinant Factor VIII ===
+Recombinant Factor VIII is produced using genetically engineered cells that express the F8 gene. This method eliminates the risk of blood-borne pathogens and allows for a consistent supply of the protein. Recombinant Factor VIII is widely used in clinical practice due to its safety profile.
-== Genetics of Factor VIII ==
+== Genetic Aspects ==
+The F8 gene is located on the X chromosome at Xq28. Mutations in this gene can lead to hemophilia A. Since the gene is located on the X chromosome, hemophilia A is an X-linked recessive disorder, primarily affecting males, while females are typically carriers.
-[[File:Coagulation factor VIII 3CDZ.png|thumb|Illustration of the Factor VIII gene located on the X chromosome.]]
+== History ==
+The discovery of Factor VIII and its role in coagulation was a significant milestone in hematology. The development of Factor VIII concentrates revolutionized the treatment of hemophilia A, transforming it from a debilitating condition to a manageable disorder.
-The gene responsible for producing Factor VIII is located on the X chromosome. Mutations in this gene can result in hemophilia A, which is why the disorder is more common in males, who have only one X chromosome.
+== Also see ==
+* [[Hemophilia A]]
+* [[Coagulation cascade]]
+* [[Recombinant DNA technology]]
+* [[Thrombin]]
-== Hemophilia A and Factor VIII ==
+{{Blood proteins}}
-Hemophilia A is characterized by a deficiency or dysfunction of Factor VIII, which impairs the body's ability to control bleeding. Severity of the disease can vary, typically correlating with the levels of functional Factor VIII in the blood.
+{{Coagulation}}
-== Treatment with Factor VIII ==
-Treatment of hemophilia A involves replacing the missing Factor VIII, which can be done with:
-* Plasma-derived Factor VIII concentrates
-* Recombinant Factor VIII products
-[[File:Esquema Factor VIII.png|thumb|Administration of Factor VIII concentrate to a hemophilia patient.]]
-Both treatments are administered intravenously and can be used on a regular schedule to prevent bleeding (prophylaxis) or to stop bleeding when it occurs (on-demand).
-== Advances in Factor VIII Therapy ==
-Recent advances in biotechnology have led to the development of longer-acting Factor VIII products and gene therapies that aim to correct the underlying genetic defect in hemophilia A, potentially offering a long-term solution for patients.
-== Safety and Considerations ==
-While Factor VIII replacement therapy is effective, it requires careful dosing and monitoring. Development of inhibitors, which are antibodies against Factor VIII, is a significant complication that can render replacement therapy ineffective.
-== Conclusion ==
-Factor VIII is indispensable for blood clotting, and its clinical significance is most notably observed in the management of hemophilia A. Ongoing research and development in the field of hematology continue to improve the quality of life for individuals affected by Factor VIII deficiency.
-[[Category:Blood Clotting Proteins]]
-[[Category:Coagulation System]]
 [[Category:Hematology]]
-[[Category:Genetic Disorders]]
+[[Category:Blood proteins]]
-{{stub}}
+[[Category:Coagulation system]]