Genetic characteristics of the 3 common inherited bleeding disorders: hemophilia A, hemophilia B, and VWD
| Disease . | Genetic features . |
|---|---|
| Hemophilia A | Mutation database www.hadb.org.uk |
| 2107 unique F8 mutations | |
| F8 Mutation detection rate ∼95% | |
| ∼45% of severe disease due to recurring intron 22 inversion | |
| 983 missense mutations | |
| 208 nonsense mutations | |
| 153 splice site mutations | |
| 357 small deletions | |
| 255 large deletions | |
| 146 insertions | |
| 13 nonsynonymous F8 polymorphisms | |
| Hemophilia B | Mutation database www.factorix.org |
| 1,108 unique F9 mutations | |
| F9 mutation detection rate ∼95% | |
| 808 missense mutations | |
| 182 deletion mutations | |
| 38 insertions | |
| 5 complex mutations | |
| 4 duplications | |
| 54 F9 polymorphisms | |
| VWD | Mutation database www.vwf.group.shef.ac.uk |
| 399 unique VWF mutations | |
| VWF mutation detection rate: type 1 ∼65%, type 2 A, B, M and N ∼90%, type 3 ∼85% | |
| 127 type 1 VWD mutations | |
| 75 type 2A VWD mutations | |
| 25 type 2B VWD mutations | |
| 29 type 2M VWD mutations | |
| 31 type 2N VWD mutations | |
| 112 type 3 VWD mutations | |
| 181 VWF polymorphisms |
| Disease . | Genetic features . |
|---|---|
| Hemophilia A | Mutation database www.hadb.org.uk |
| 2107 unique F8 mutations | |
| F8 Mutation detection rate ∼95% | |
| ∼45% of severe disease due to recurring intron 22 inversion | |
| 983 missense mutations | |
| 208 nonsense mutations | |
| 153 splice site mutations | |
| 357 small deletions | |
| 255 large deletions | |
| 146 insertions | |
| 13 nonsynonymous F8 polymorphisms | |
| Hemophilia B | Mutation database www.factorix.org |
| 1,108 unique F9 mutations | |
| F9 mutation detection rate ∼95% | |
| 808 missense mutations | |
| 182 deletion mutations | |
| 38 insertions | |
| 5 complex mutations | |
| 4 duplications | |
| 54 F9 polymorphisms | |
| VWD | Mutation database www.vwf.group.shef.ac.uk |
| 399 unique VWF mutations | |
| VWF mutation detection rate: type 1 ∼65%, type 2 A, B, M and N ∼90%, type 3 ∼85% | |
| 127 type 1 VWD mutations | |
| 75 type 2A VWD mutations | |
| 25 type 2B VWD mutations | |
| 29 type 2M VWD mutations | |
| 31 type 2N VWD mutations | |
| 112 type 3 VWD mutations | |
| 181 VWF polymorphisms |
Databases accessed May 2013.