Sunday, December 6, 2009

Royals with hemophilia



Art:The blood coagulation cascade. Each protein circulates in the blood in an active form. The blood coagulation cascade. Each protein circulates in the blood in an active form.

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The blood coagulation cascade. Each protein circulates in the blood in an active form.

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  prothrombin   

Antithrombin

also called  antithrombin III  or  ATIII  an anticlotting substance occurring in the plasma of blood that functions primarily to block the action of thrombin, an enzyme central to coagulation—the process by which a clot is formed. AT combines with thrombin as well as most of the other activated blood-clotting proteins (e.g., factors Xa and IXa) to form inert complexes. This action is greatly enhanced by the presence of heparin, a substance formed by mast cells of the connective tissue.
Hereditary AT deficiency is associated with an excessive tendency toward clot formation, and manifestations of this defect are recurrent thrombophlebitis and pulmonary embolism

coagulation

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Photograph:Red blood cells (erythrocytes) trapped in a mesh of fibrin threads. Fibrin, a tough, insoluble …
Red blood cells (erythrocytes) trapped in a mesh of fibrin threads. Fibrin, a tough, insoluble …
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in physiology, the process by which a blood clot is formed. The formation of a clot is often referred to as secondary hemostasis, because it forms the second stage in the process of arresting the loss of blood from a ruptured vessel. The first stage, primary hemostasis, is characterized by blood vessel constriction (vasoconstriction) and platelet aggregation at the site of vessel injury. Under abnormal circumstances, clots can also form in a vessel that has not been breached; such clots can result in the occlusion (blockage) of the vessel (see thrombosis).

Art:The blood coagulation cascade is initiated through either the extrinsic or intrinsic pathway. Both …
The blood coagulation cascade is initiated through either the extrinsic or intrinsic pathway. Both …
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Clotting is a sequential process that involves the interaction of numerous blood components called coagulation factors. There are 13 principal coagulation factors in all, and each of these has been assigned a Roman numeral, I to XIII. Coagulation can be initiated through the activation of two separate pathways, designated extrinsic and intrinsic. Both pathways result in the production of factor X. The activation of this factor marks the beginning of the so-called common pathway of coagulation, which results in the formation of a clot.
The extrinsic pathway is generally the first pathway activated in the coagulation process and is stimulated in response to a protein called tissue factor, which is expressed by cells that are normally found external to blood vessels. However, when a blood vessel breaks and these cells come into contact with blood, tissue factor activates factor VII, forming factor VIIa, which triggers a cascade of reactions that result in the rapid production of factor X. In contrast, the intrinsic pathway is activated by injury that occurs within a blood vessel. This pathway begins with the activation of factor XII (Hageman factor), which occurs when blood circulates over injured internal surfaces of vessels. Components of the intrinsic pathway also may be activated by the extrinsic pathway; for example, in addition to activating factor X, factor VIIa activates factor IX, a necessary component of the intrinsic pathway. Such cross-activation serves to amplify the coagulation process.
The production of factor X results in the cleavage of prothrombin (factor II) to thrombin (factor IIa). Thrombin, in turn, catalyzes the conversion of fibrinogen (factor I)—a soluble plasma protein—into long, sticky threads of insoluble fibrin (factor Ia). The fibrin threads form a mesh that traps platelets, blood cells, and plasma. Within minutes, the fibrin meshwork begins to contract, squeezing out its fluid contents. This process, called clot retraction, is the final step in coagulation. It yields a resilient, insoluble clot that can withstand the friction of blood flow.


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hemophilia

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also spelled  haemophilia  hereditary bleeding disorder caused by a deficiency of a substance necessary for blood clotting (coagulation). In hemophilia A, the missing substance is factor VIII. The increased tendency to bleeding usually becomes noticeable early in life and may lead to severe anemia or even death. Large bruises of the skin and soft tissue are often seen, usually following injury so trivial as to be unnoticed. There may also be bleeding in the mouth, nose, and gastrointestinal tract. After childhood, hemorrhages in the joints—notably the knees, ankles, and elbows—are frequent, resulting in swelling and impaired function.

Art:Transmission of hemophilia
Transmission of hemophilia
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The transmission of this condition is characteristically sex-linked, being expressed almost exclusively in males but transmitted solely by females; sons of a male with hemophilia are normal, but daughters, although outwardly normal, may transmit the trait as an overt defect to half their sons and as a recessive or hidden trait to half their daughters, as shown in the chart. The existence of hemophilia in certain royal families of Europe, particularly descendants of Great Britain's Queen Victoria, is well known.
Persons with hemophilia are ordinarily advised to avoid activities that might expose them to bodily injury. The management of bleeding episodes includes infusions of clotting factor, which is derived from human blood or by recombinant DNA technology. The drug desmopressin (DDAVP) is useful in treating milder forms of hemophilia A.
Hemophilia may also be attributed to a deficiency of factor IX (hemophilia B) or of factor XI (hemophilia C); hemophilia B (also called Christmas disease), like hemophilia A, is sex-linked and occurs almost only in males, whereas hemophilia C may be transmitted by both males and females and is found in both sexes.


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hereditary transmission

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hemophilia: hereditary transmission  
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Art:Transmission of hemophilia (A) Mating of affected hemophilic man and normal woman—all sons normal, all daughters carriers. (B) Mating of carrier woman and normal man—half of sons normal and half affected; half of daughters carriers, half normal. Transmission of hemophilia
(A) Mating of affected hemophilic man and normal woman—all sons normal, all daughters carriers. (B) Mating of carrier woman and normal man—half of sons normal and half affected; half of daughters carriers, half normal.

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