Effect of von Willebrand factor Y/C1584 on in vivo protein level and function and interaction with ABO blood group

Abstract

Blood group O and the cysteine allele of the Y/C1584 change in von Willebrand factor (VWF) are enriched in type 1 VWD, but neither causes disease. We investigated the effect of C1584, alone and in combination with the ABO blood group, on the level and properties of plasma VWF. A cohort of 5052 blood donors was recruited: 50 donors were heterozygous for Y/C1584 and 5002 were homozygous for Y/Y1584. Mean VWF antigen (VWF:Ag) for heterozygotes (82 ± 35 IUdL-1) was significantly lower than for homozygotes (111 ± 37 IUdL-1) (P