better understanding of the molecular mechanisms and the environmental risk factors contributing to the risk of inhibitor development will help in the design of an individual treatment course for each patient with mild haemophilia minimizing the inhibitor risk. The maximal use of desmopressin certainly is a cornerstone in this strategy. For inhibitor eradication, less invasive strategies than the standard ‘immune tolerance induction’ are urgently needed to decrease the morbidity in these often elderly patients. The group of mild haemophilia patients requiring major surgery will further increase with increased life expectancy. Prevention of inhibitor formation in this vulnerable patient group is a challenge for the next decade. The authors stated that they had no interests which might be perceived as posing STA-9090 in vitro a conflict or bias. “
“This chapter summarizes the cellular processing of factors VIII and IX with an emphasis on modifications that are relevant to the factors’ structure and function, and in particular on those modifications important in recombinant protein production and gene therapy. Factor VIII is extensively processed in the secretory pathway by N- and O-linked glycosylation, sulfation, phosphorylation, selleck inhibitor disulfide bond formation, and proteolytic cleavage, all
of which are important for factor VIII structure and function. Factor IX, although smaller and more easily translated and secreted, also undergoes significant cellular process including N- and O-linked glycosylation, sulfation, phosphorylation, disulfide bond formation, and proteolytic cleavage as well as β-hydroxylation of aspartic acid residues and γ-carboxylation of glutamic acid residues. The tightly regulated and quality controlled execution of these modifications is essential for the efficient secretion of active factors VIII and IX. “
“Haemophilia is an inherited learn more bleeding disorder affecting approximately
3000 Canadian men (Walker 2012). To manage their disease effectively individuals must be knowledgeable about the disease, bleed prevention strategies, treatment approaches, and complications. Data on individuals’ knowledge levels are scarce. The availability of such data could lead to better educational strategies for disease management. The aim of this study was to determine current knowledge levels, needs and gaps among Canadian individuals with haemophilia to facilitate optimal disease management. A survey was disseminated to adult males with haemophilia at three Haemophilia Treatment Centres (HTCs) in Canada. Self-reported current knowledge levels and knowledge seeking were measured. Survey respondents reported highest levels of knowledge in the following areas: identifying and treating a bleed, haemophilia and physical activity, travel, career issues and genetics.