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

Table 3 Laboratory features of recessive severe type 1 due to a double heterozygous missense mutation in the CK domain of the von Willebrand factor gene

Mutation	Age (yr)	Gender	BT	FVIII: C	VWF: Ag	VWF: RCo	VWF: RCo/Ag	RIPA	VWD type
C2754W/C2754W[31]	13	F	> 20	0.12	< 0.05	< 0.05	-	nt	3
Father C2754W[31]	-	M	5	0.54	0.33	0.38	1.15	nt	Mild 1
Mother C2754W[31]	-	F	5	0.55	0.38	0.43	1.13	nt	Mild 1

VWF: von Willebrand factor; VWD: von Willebrand disease; M: Male; F: Female; FVIII: Factor VIII; RIPA: Ristocetin induced platelet aggregation.