Table 2.

Genetic testing and VWF:GP1bM activity by treatment group

Total
N = 20
rVWF + TXA
n = 10
rVWF
n = 10
Baseline VWF:GP1bM available 12 (60) 8 (80) 4 (40) 
VWF:GP1bM, IU/dL 0.45 (0.23-0.64) 0.48 (0.23-0.64) 0.39 (0.23-0.48) 
NGS: VWF available 11 (55) 6 (60) 5 (50) 
p.D1472H polymorphism  
Pathogenetic variant 
Variant of unknown significance 
Total
N = 20
rVWF + TXA
n = 10
rVWF
n = 10
Baseline VWF:GP1bM available 12 (60) 8 (80) 4 (40) 
VWF:GP1bM, IU/dL 0.45 (0.23-0.64) 0.48 (0.23-0.64) 0.39 (0.23-0.48) 
NGS: VWF available 11 (55) 6 (60) 5 (50) 
p.D1472H polymorphism  
Pathogenetic variant 
Variant of unknown significance 

Available NGS results and lowest recorded VWF:GP1bM activity levels outside of pregnancy. These tests were not conducted as part of the study protocol but were obtained from clinical records.

NGS, next-generation sequencing; VWF:GP1bM, von Willebrand factor:GP1bM activity.

One participant had a p.D1472H polymorphism in conjunction with a separate pathogenic VWF variant.

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