Table 1

Clinical and laboratory parameters of the patients with VWD2B enrolled in the study listed according to mutations of the VWF A1 domain

Patient no.MutationBleeding scorePlatelet count, × 109/LRIPA, mg/mLVWF:Ag, U/dLVWF:RCo, U/dLFVIII:C, U/dLVWF:RCo/Ag ratioHMW/ intermediate multimers
P1 P1266L 251 0.4 59 45 57 0.76 Present/normal 
P2 R1306W 12 175 0.6 45 28 51 0.62 Absent/partial loss 
P3 R1308C 121 0.5 54 21 45 0.39 Absent/complete loss 
P4 I1309V 96 0.3 160 125 140 0.78 Absent/normal 
P5 V1316M 13 274 0.6 33 12 0.21 Absent/complete loss 
P6 V1316M 17 60 0.25 70 25 52 0.4 Absent/complete loss 
P7 R1341Q 98 0.25 95 70 69 0.7 Absent/partial loss 
P8 R1341Q 10 120 0.5 79 48 47 0.6 Absent/partial loss 
P9 R1341W 195 0.4 72 42 73 0.58 Absent/partial loss 
Patient no.MutationBleeding scorePlatelet count, × 109/LRIPA, mg/mLVWF:Ag, U/dLVWF:RCo, U/dLFVIII:C, U/dLVWF:RCo/Ag ratioHMW/ intermediate multimers
P1 P1266L 251 0.4 59 45 57 0.76 Present/normal 
P2 R1306W 12 175 0.6 45 28 51 0.62 Absent/partial loss 
P3 R1308C 121 0.5 54 21 45 0.39 Absent/complete loss 
P4 I1309V 96 0.3 160 125 140 0.78 Absent/normal 
P5 V1316M 13 274 0.6 33 12 0.21 Absent/complete loss 
P6 V1316M 17 60 0.25 70 25 52 0.4 Absent/complete loss 
P7 R1341Q 98 0.25 95 70 69 0.7 Absent/partial loss 
P8 R1341Q 10 120 0.5 79 48 47 0.6 Absent/partial loss 
P9 R1341W 195 0.4 72 42 73 0.58 Absent/partial loss 

VWF:Ag indicates VWF antigen; VWF:RCo: VWF as ristocetin cofactor activity; FVIII:C, procoagulant activity of FVIII; VWF:RCo/Ag, calculated ratio with antigen; and HMW/intermediate, high-molecular-weight vs intermediate multimers.

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