Table 1.

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

Databases accessed May 2013.