Pseudohemophilia of Erik von Willebrand caused by homozygous one nucleotide deletion in exon 18 of the VW-factor gene

Table 1 FVIII: C and von Willebrand factor levels in family S together with finding of heterozygous non-sense mutation, deletion exon 18, consistent with mild von Willebrand disease type 1

Family S, Number	Mutation	FVIII: CIU/dL	VWF: AgIU/dL	VWF: RCoIU/dL	RCo/AgRatio
5		0.93
6		0.51
12	del 18	0.81	0.80	0.73	0.91
13	del 18	0.53	0.56	0.46	0.82
14	del 18	0.35	0.35	0.32	0.91
18	negative	0.96	0.86	0.65	0.76
19	del 18	1.10	0.67	0.81	1.20
22	unknown	0.50	0.38	0.25	0.66
23	unknown	0.73	0.39	0.39	1.00
24	P1266L	0.39	0.34	0.42	1.23
25	del 18/P1266L	0.69	0.20	0.30	1.5

VWF: von Willebrand factor; VWD: von Willebrand disease; FVIII: Factor VIII.