Related Research Articles
Haemophilia, or hemophilia, is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. This results in people bleeding for a longer time after an injury, easy bruising, and an increased risk of bleeding inside joints or the brain. Those with a mild case of the disease may have symptoms only after an accident or during surgery. Bleeding into a joint can result in permanent damage while bleeding in the brain can result in long term headaches, seizures, or a decreased level of consciousness.
Haemophilia A is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. This condition occurs almost exclusively in males born to carrier mothers due to X-linked recessive inheritance. Nevertheless, rare isolated cases do emerge from de novo (spontaneous) mutations.
Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency.
Von Willebrand disease (VWD) is the most common hereditary blood-clotting disorder in humans. An acquired form can sometimes result from other medical conditions. It arises from a deficiency in the quality or quantity of von Willebrand factor (VWF), a multimeric protein that is required for platelet adhesion. It is known to affect several breeds of dogs as well as humans. The three forms of VWD are hereditary, acquired, and pseudo or platelet type. The three types of hereditary VWD are VWD type 1, VWD type 2, and VWD type 3. Type 2 contains various subtypes. Platelet type VWD is also an inherited condition.
Haemophilia C (also known as plasma thromboplastin antecedent deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly occurs in Ashkenazi Jews. It is the fourth most common coagulation disorder after von Willebrand's disease and haemophilia A and B. In the United States, it is thought to affect 1 in 100,000 of the adult population, making it 10% as common as haemophilia A.
Factor VIII (FVIII) is an essential blood-clotting protein, also known as anti-hemophilic factor (AHF). In humans, factor VIII is encoded by the F8 gene. Defects in this gene result in hemophilia A, an X-linked coagulation disorder. Factor VIII is produced in liver sinusoidal cells and endothelial cells outside the liver throughout the body. This protein circulates in the bloodstream in an inactive form, bound to another molecule called von Willebrand factor, until an injury that damages blood vessels occurs. In response to injury, coagulation factor VIII is activated and separates from von Willebrand factor. The active protein interacts with another coagulation factor called factor IX. This interaction sets off a chain of additional chemical reactions that form a blood clot.
In medicine (hematology), bleeding diathesis is an unusual susceptibility to bleed (hemorrhage) mostly due to hypocoagulability, in turn caused by a coagulopathy. Therefore, this may result in the reduction of platelets being produced and leads to excessive bleeding. Several types of coagulopathy are distinguished, ranging from mild to lethal. Coagulopathy can be caused by thinning of the skin, such that the skin is weakened and is bruised easily and frequently without any trauma or injury to the body. Also, coagulopathy can be contributed by impaired wound healing or impaired clot formation.
Cryoprecipitate, also called cryo for short, is a frozen blood product prepared from blood plasma. To create cryoprecipitate, fresh frozen plasma thawed to 1–6 °C is then centrifuged and the precipitate is collected. The precipitate is resuspended in a small amount of residual plasma and is then re-frozen for storage. It is often transfused to adults as two 5-unit pools instead of as a single product. One of the most important constituents is factor VIII, which is why cryoprecipitate is sometimes called cryoprecipitated antihaemophilic factor or cryoprecipitated AHF. In many clinical contexts, use of whole cryoprecipitate has been replaced with use of clotting factor concentrates made therefrom, but the whole form is still routinely stocked by many, if not most, hospital blood banks. Cryo can be stored at −18 °C or colder for 12 months from the original collection date. After thawing, single units of cryo can be stored at 20–24 °C for up to 6 hours. If units of cryo are pooled in an open system, they can only be held at 20–24 °C for up to 4 hours. Presently cryo cannot be re-frozen for storage after it is thawed for use if it is not transfused.
Coagulation factor VII is one of the proteins that causes blood to clot in the coagulation cascade, and in humans is coded for by the gene F7. It is an enzyme of the serine protease class. Once bound to tissue factor released from damaged tissues, it is converted to factor VIIa, which in turn activates factor IX and factor X.
Factor IX is one of the serine proteases of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes haemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas was found to be lacking this exact factor, leading to haemophilia.
Factor VIII is a medication used to treat and prevent bleeding in people with hemophilia A and other causes of low factor VIII. Certain preparations may also be used in those with von Willebrand's disease. It is given by slow injection into a vein.
Recombinant factor VIIa, also known as eptacog alfa (INN), and sold under the brand name Novoseven, among others, is a form of blood factor VII that has been manufactured via recombinant technology. It is administered via an injection into a vein.
Andexanet alfa, sold under the brand name Andexxa among others, is an antidote for the medications rivaroxaban and apixaban, when reversal of anticoagulation is needed due to uncontrolled bleeding. It has not been found to be useful for other factor Xa inhibitors. It is given by injection into a vein.
Jeanne Marie Lusher, M.D. was an American physician, pediatric hematologist/oncologist, and a researcher in the field of bleeding disorders of childhood, and has served as the director of Hemostasis Program at the Children's Hospital of Michigan until her retirement on June 28, 2013.
Turoctocog alfa is a recombinant antihemophilic factor VIII used for the treatment of and prophylaxis of bleeding patients with haemophilia A. It is marketed by Novo Nordisk. It was approved in the United States, the European Union, and Japan in 2013.
Susoctocog alfa, sold under the brand name Obizur, is a medication used for the treatment of bleeding episodes in adults with acquired haemophilia, a bleeding disorder caused by the spontaneous development of antibodies that inactivate factor VIII.
Vonicog alfa, sold under the brand names Vonvendi and Veyvondi, is a medication used to control bleeding in adults with von Willebrand disease. It is a recombinant von Willebrand factor.
Efmoroctocog alfa, sold under the brand name Elocta among others, is a medication for the treatment and prophylaxis of bleeding in people with hemophilia A. Efmoroctocog alfa is a recombinant human coagulation factor VIII, Fc fusion protein (rFVIIIFc). It is produced by recombinant DNA technology in a human embryonic kidney (HEK) cell line.
Damoctocog alfa pegol, sold under the brand name Jivi is a recombinant DNA-derived, Factor VIII concentrate medication used to treat hemophilia A.
Efanesoctocog alfa, sold under the brand name Altuviiio, is a medication used for the treatment of hemophilia A.
References
- ↑ "Antihemophilic factor Use During Pregnancy". Drugs.com. 20 January 2020. Retrieved 11 March 2020.
- ↑ "ReFacto AF 250 IU powder and solvent for solution for injection - Summary of Product Characteristics (SmPC)". (emc). 17 October 2019. Retrieved 13 May 2020.
- ↑ "ReFacto sAntihemophilic Factor, Recombinant" (PDF). Wyeth Pharmaceuticals Inc.
- ↑ Frampton JE (September 2016). "Efmoroctocog Alfa: A Review in Haemophilia A". Drugs. 76 (13): 1281–1291. doi:10.1007/s40265-016-0622-z. PMID 27487799. S2CID 28322.
- ↑ "ReFacto AF 2000 IU powder and solvent for solution for injection" (PDF). Wyeth Farma S.A. European Medicines Agency.
- 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 "ReFacto AF EPAR". European Medicines Agency (EMA). 17 September 2018. Retrieved 13 May 2020.
This article incorporates text from this source, which is in the public domain .
