Clinical and laboratory parameters of the patients with VWD2B enrolled in the study listed according to mutations of the VWF A1 domain
Patient no. . | Mutation . | Bleeding score . | Platelet count, × 109/L . | RIPA, mg/mL . | VWF:Ag, U/dL . | VWF:RCo, U/dL . | FVIII:C, U/dL . | VWF:RCo/Ag ratio . | HMW/ intermediate multimers . |
---|---|---|---|---|---|---|---|---|---|
P1 | P1266L | 6 | 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 | 9 | 121 | 0.5 | 54 | 21 | 45 | 0.39 | Absent/complete loss |
P4 | I1309V | 9 | 96 | 0.3 | 160 | 125 | 140 | 0.78 | Absent/normal |
P5 | V1316M | 13 | 274 | 0.6 | 33 | 12 | 6 | 0.21 | Absent/complete loss |
P6 | V1316M | 17 | 60 | 0.25 | 70 | 25 | 52 | 0.4 | Absent/complete loss |
P7 | R1341Q | 9 | 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 | 9 | 195 | 0.4 | 72 | 42 | 73 | 0.58 | Absent/partial loss |
Patient no. . | Mutation . | Bleeding score . | Platelet count, × 109/L . | RIPA, mg/mL . | VWF:Ag, U/dL . | VWF:RCo, U/dL . | FVIII:C, U/dL . | VWF:RCo/Ag ratio . | HMW/ intermediate multimers . |
---|---|---|---|---|---|---|---|---|---|
P1 | P1266L | 6 | 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 | 9 | 121 | 0.5 | 54 | 21 | 45 | 0.39 | Absent/complete loss |
P4 | I1309V | 9 | 96 | 0.3 | 160 | 125 | 140 | 0.78 | Absent/normal |
P5 | V1316M | 13 | 274 | 0.6 | 33 | 12 | 6 | 0.21 | Absent/complete loss |
P6 | V1316M | 17 | 60 | 0.25 | 70 | 25 | 52 | 0.4 | Absent/complete loss |
P7 | R1341Q | 9 | 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 | 9 | 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.