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

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

This publication comprises the contributions to the thirty second Hemophilia Symposium, Hamburg 2001. the most issues are epidemiology, hemophilia, pediatric hemostasiology. the quantity is rounded off by means of a number of unfastened papers and posters on hemophilia, hemorrhagic diathesis, thrombophilic diathesis and linked themes.

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The gene is hypothesized to have a chaperone function involved in the secretion process for both, FV and FVIII. , 1998). Therefore , it might be concluded that in approximately 2% of the diagnosed hemophilia A patients further investigations remain necessary to elaborate the underlying molecular lesion. 11 novel Mutations in the F VIII encoding Gene lead to severe or moderate Hem. A 31 Acknowledgment. The expert technical assistance of Klara Fizi is gratefully acknowledged. Part of this work was supported by a grant from the German Human Genome Project (DHGP) to HHB, JG, JO,RS and WS (OlKW990S).

7). 9%) that have up to now not shown severe symptoms of the immune disease (Table 3). , .. k .... 1141 ~ . . 00 ' . "". ",---------------, '6 III " ~ ~ >- ,. 8. • 11 ~ '0 • i§ .. period .... - period Fig. 8. Total number of deaths of HIV compared to total number of deaths of liver disease HIV Infection and Causes of Death in Patients with Hemophilia in Germany 9 Table 4. 0 Causes ofDeath In the 2000/2001 period a total of 36 patients were reported dead with the distrib ution of causes of death given in Table 4.

Origin Clinical 52 11459 3792 11228 9845 9069 3587 9189 11294 9169 43 9280 9857 55 37 3703 8205 1989 9232 8478 9171 10892 10892 31 48 3571 2252 2271 2272 8783 11292 2269 14 3 44 2705 (P) (Ve) (G) (G) (G) (1) (G) (G) (G) (G) (P) (G) (G) (P) (Si) (G) (R) (G) (G) (G) (Li) (1) (1) (P) (P) (P) (G) (G) (G) (G) (G) (G) (P) (P) (P) (G) severe Pro moter Promoter moderate Promoter severe Promoter Promoter Promoter Promoter Ile(-40) Phe mild Frame shift stop(-24) Frameshift stop (-27) Cys(-19) Arg moderate Val(- 17) Ile IVSA+IG>A inhibitor severe IVSA+5G>A Donor spli ce delGTTT (female<15) Asn( -11 )Thr Arg(-4) Trp Arg(-4) Trp severe Arg(-4 ) Trp Arg(-4) Trp Arg( -4) Trp Arg( -4) Trp Arg(-4) Trp Arg(-4) Gin severe severe Arg( -4) Gin Arg(-4) Gin severe Arg(-4) Leu severe Arg(-4) Leu severe Arg(-4) Leu severe Arg(-4) Leu moderate severe Arg(-4) Leu Lys(-2)deIA frame shift severe Arg(-l) Ser moderate severe Glu7Vai severe Glu8Asp delArg15-Glu 16 severe 3282 9759 2232 9410 3408 9536 3149 9503 9172 2133 2225 2230 (G) (G) (A) (G) (G) (G) (A) (G) moderate mild moderate severe severe mild (Li) (H) (A) (A) severe severe Codon No.

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