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

Table 7 Response of FVIII: C and von Willebrand factor parameters to DDAVP (0.3 ug/kg) in an obligatory carriers of a null allele heterozygous for the nonsense splice site mutation IV7 + 1G > A in intron 7. (0874 + 1G > A) in intron 7

DDAVP	Before	1	2	4	6	H post-DDAVP
FVIII: C	0.84	5	5.4	5.3	4.9	IU/mL
VWF: Ag	0.64	1.3	1.7	1.5	1.4	IU/mL
VWF: RCo	0.67	1.8	2	1.35	1.2	IU/mL
FVIII: C/VWF: Ag ratio	1.3	3.8	3.1	3.5	3.5	Carrier of null allele
VWF: RCo/Ag ratio	1.05	1.38	1.17	0.9	0.86	Mild type 1 VWD

VWF: von Willebrand factor; VWD: von Willebrand disease; DDAVP: Desmopressin acetate.