By W. Schramm, H. Krebs (auth.), Professor Dr. med. Inge Scharrer, Professor Dr. med. Wolfgang Schramm (eds.)
This ebook comprises the contributions to the thirty second Hemophilia Symposium, Hamburg 2001. the most themes are epidemiology, hemophilia, pediatric hemostasiology. the amount is rounded off via various loose papers and posters on hemophilia, hemorrhagic diathesis, thrombophilic diathesis and linked themes.
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Extra resources for 32nd Hemophilia Symposium: Hamburg 2001
Miinchen; Oldenburg 0. , Miinster. I. ) 32,d Hemophilia Symposi on Hamburg 2001 II;) Springer. Verlag Berlin Heidelberg 2003 36 K. Wulff et al. Most mutations were detected in the codons Arg(-4), Arg180, Arg248 and Thr296. All these frequent lesions are located in a CpG island a hot spot for mutations. The same origin of these frequent mutations in all cases is not likely. The results of this study emphasize the high molecular heterogeneity of hemophilia B. Introduction Hemophilia B is a recessive X-linked bleeding disorder caused by a deficiency of the clotting factor IX (F IX).
These 298 FIX gene mutations represent 178 different FIX lesions. 123 of all are unique mutants which were found in only one family. 55 mutants were detected repeatedly, at least in two unrelated pat ients . , Miinchen; Oldenburg 0. , Miinster. I. ) 32,d Hemophilia Symposi on Hamburg 2001 II;) Springer. Verlag Berlin Heidelberg 2003 36 K. Wulff et al. Most mutations were detected in the codons Arg(-4), Arg180, Arg248 and Thr296. All these frequent lesions are located in a CpG island a hot spot for mutations.
Besides the executive summary, the report contains a comprehensive compilation of scientific data and references to numerous official documents and assessments. In this short contribution, only some essential statements of the report shall be mentioned: • The EU-wide ban on the processing ofBSE risk materials,which has been in force since 1 October 2000, is aimed at preventing the transmission of BSE to humans. The rigorous observance of this ban is the essential precondition for ensuring that there is no further spread of vCJD as a result of foodstuffs contaminated with the BSE agent.