By W. Schramm, H. Krebs (auth.), Professor Dr. med. Inge Scharrer, Professor Dr. med. Wolfgang Schramm (eds.)

ISBN-10: 354043884X

ISBN-13: 9783540438847

ISBN-10: 3642181503

ISBN-13: 9783642181504

This booklet comprises the contributions to the thirty second Hemophilia Symposium, Hamburg 2001. the most issues are epidemiology, hemophilia, pediatric hemostasiology. the amount is rounded off by way of a variety of loose papers and posters on hemophilia, hemorrhagic diathesis, thrombophilic diathesis and linked issues.

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Extra info for 32nd Hemophilia Symposium: Hamburg 2001

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Arranging data for greater periods one can see this effect obviously, although not yet statistically significant (Fig. 8). The future development of a possible correlation should be observed carefully. No indications for Creutzfeld-Jakob disease in our patient collective has been reported since 1978. GTH Hemophilia Registry The German Society of Thrombosis and Hemostasis (GTH) is currently establishing a central registry accessible to all German centers treating patients with bleeding disorders.

Novel Mutations in the FVIII Gene a) Novel Mutations in the Coding Region Exon Patient Mutation 4 14 14 14 17 18 18 26 24 11 15 20 13 27 9 31 A~T T~G A~T insT insT A~G ins GGAG delC nt cDNA Codon Amino Acid Exchange Domain Phenotype 440 2496 2893 3417-3418 5696-5697 5834 5968-5972 7013 128 813 946 1120 1880 1926 1971 2319 V~D Al B B B A3 A3 A3 C2 Y~X K~X new 26aa,X new 3aa,X M~V new 2aa,X L~X severe severe severe severe severe moderate severe severe b) Novel Mutations in Introns Leadingmost Likely to SplicingDefects Intron Patient Mutation Location Effect on Splicing Phenotype 22 35 T~A 2 nt no splicing, newORF?

DEN, N. KLOPP, J. -H. BRACKMANN, W. SCHRAMM, R. SCHWAAB, and J. GRAW Summary In Germany, approximately 5800 patients are suffering from hemophilia A. In a systematic large-scale analysis we will identify the genotype of all severe cases (approximately 3000 patients). A first screening for mutations causing hemophilia A analyzes the exons from genomic DNA by methods like DGGE,SSCP or dHPLC. Since this approach covers only approximately 97% of the mutations, the FVIII gene of the remaining patients has to be sequenced in total.

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32nd Hemophilia Symposium: Hamburg 2001 by W. Schramm, H. Krebs (auth.), Professor Dr. med. Inge Scharrer, Professor Dr. med. Wolfgang Schramm (eds.)

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