By Christine A. Lee, Erik E. Berntorp, W. Keith Hoots

The Textbook of Hemophilia has develop into a definitive source for all these coping with hemophilia sufferers. It covers the entire universal and infrequent bleeding issues, either by way of scientific administration in addition to the genetic, laboratory, monetary and mental aspects.This moment version covers all of the newest advancements within the box of hemophilia, with new chapters on:the genetic and molecular foundation of inherited blood disordershow to control adolescent and older patientsemergency medication and inherited blood disordersnational hemophilia databasesDrawing at the sizeable event of the authors, the purpose of this textbook is still an analogous - to enhance the care of sufferers struggling with hemophilia. The publication is stuffed with distinctive tips and recommendation on daily medical questions making it precious to all trainee and practising hematologists.

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71 Bentley AK, Rees DJ, Rizza C, Brownlee GG. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position −4. Cell 1986; 45: 343–8. 72 Diuguid DL, Rabiet MJ, Furie BC, Liebman HA, Furie B. Molecular basis of hemophilia B: a defective enzyme due to an unprocessed propeptide is caused by a point mutation in the factor IX precursor. Proc Natl Acad Sci USA 1986; 83: 5803–7. 73 Rehemtulla A, Kaufman RJ. Preferred sequence requirements for cleavage of pro-von Willebrand factor by propeptide-processing enzymes.

Plasma-derived factor IX and plasma-derived factor IX differ in their in vivo recovery, where the absolute recovery of plasma-derived factor IX is approximately 50% and the recovery of recombinant factor IX is approximately 30%. Studies suggest tyrosine sulfation on factor IX may be responsible for the difference in the recovery of these two sources of factor IX [58]. For example, infusion of recombinant factor IX enriched for full sulfation at Tyr155 demonstrated an equivalent recovery to plasmaderived factor IX (approximately 50%).

J Biol Chem 1994; 269: 17329–37. Moussalli M, Pipe SW, Hauri HP, Nichols WC, Ginsburg D, Kaufman RJ. Mannose-dependent endoplasmic reticulum (ER)Golgi intermediate compartment-53-mediated ER to Golgi trafficking of coagulation factors V and VIII. J Biol Chem 1999; 274: 32539–42. Cunningham MA, Pipe SW, Zhang B, Hauri HP, Ginsburg D, Kaufman RJ. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. J Thromb Haemost 2003; 1: 2360–7. Nichols WC, Seligsohn U, Zivelin A, et al.

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