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