TY - CHAP M1 - Book, Section TI - Hemophilia A1 - Walsh, Christopher E. A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:The hemophilia A and B are sex-linked disorders leading to deficiencies of coagulation factor VIII (FVIII) and FIX, respectively. Bleeding is the hallmark of the disease, principally joint and soft tissue bleeding. The level of factor is directly related to the clinical severity of the disease where severe disease is less than 1% activity, moderate disease is 1% to 5%, and mild disease is greater than 5%. FXI deficiency (also known as hemophilia C), bleeding classically is not directly related to factor level and occurs several days after initial trauma or surgery. Antibodies to factor proteins termed inhibitors occur in 20% to 30% of FVIII patients and 2% to 4% of FIX patients. Inhibitor levels greater than 5 Bethesda units (BUI) require the use of bypassing agents such as Novoseven (FVIIa) and/or FVIII inhibitor bypassing activity (FEIBA). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102699828 ER -