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Pathology definition - Hemophilia
Hemophilia
There are two form of hemophilia which include hemophilia A and hemophilia B. Both hemophilia is treated with replacement of the deficient clotting factor. Hemophilia A and hemophilia B mostly present with bleeding into the muscle as well as into the joints.
Hemophilia A results in a deficiency of the factor VIII. Hemophilia B results in deficiency of the factor IX. Both hemophilia A and hemophilia B is an IX linked recessive disorders. The lacking of the clotting factor IX and clotting factor VII may lead to an ineffectiveness of the intrinsic pathway of the coagulation.
Laboratory investigation may reveal a prolongation of the partial thromboplastin time ( PTT) with normal thrombin time, normal prothrombin time and normal bleeding time.
References
1.Hoyer, Leon W. “Hemophilia A.” New England Journal of Medicine 330, no. 1 (January 6, 1994): 38–47. doi:10.1056/NEJM199401063300108.
2.Kasper, C. K., B. Osterud, J. Y. Minami, W. Shonick, and S. I. Rapaport. “Hemophilia B: Characterization of Genetic Variants and Detection of Carriers.” Blood 50, no. 3 (September 1, 1977): 351–366.
There are two form of hemophilia which include hemophilia A and hemophilia B. Both hemophilia is treated with replacement of the deficient clotting factor. Hemophilia A and hemophilia B mostly present with bleeding into the muscle as well as into the joints.
Hemophilia A results in a deficiency of the factor VIII. Hemophilia B results in deficiency of the factor IX. Both hemophilia A and hemophilia B is an IX linked recessive disorders. The lacking of the clotting factor IX and clotting factor VII may lead to an ineffectiveness of the intrinsic pathway of the coagulation.
Laboratory investigation may reveal a prolongation of the partial thromboplastin time ( PTT) with normal thrombin time, normal prothrombin time and normal bleeding time.
References
1.Hoyer, Leon W. “Hemophilia A.” New England Journal of Medicine 330, no. 1 (January 6, 1994): 38–47. doi:10.1056/NEJM199401063300108.
2.Kasper, C. K., B. Osterud, J. Y. Minami, W. Shonick, and S. I. Rapaport. “Hemophilia B: Characterization of Genetic Variants and Detection of Carriers.” Blood 50, no. 3 (September 1, 1977): 351–366.
