Demographic data and laboratory measurements in the 16 VWD2B patients who never had thrombocytopenia
| Mutation . | Initials (no. of families) . | Age, y . | Sex, F-M . | Bleeding severity score . | BT, minutes . | RIPA, mg/mL . | VWF:RCo, U/dL . | VWF:RCo/Ag, ratio . | FVIII, U/dL . | Platelet count at baseline, ×103/μL . | MPV, fl . | VWF–GPIb-α/BC . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N1231T/P1266Q | NP (1) | 46 | F | 2 | NT | 0.70 | 25 | 0.66 | 62 | 353 | NT | 0.62 |
| PV (1) | 21 | M | 0 | NT | 0.60 | 21 | 0.70 | 54 | 217 | 8.4 | 0.84 | |
| GM (2) | 19 | M | 0 | NT | 0.80 | 39 | 0.97 | 39 | 308 | NT | 0.65 | |
| GF (2) | 52 | M | 1 | NT | 0.40 | 101 | 0.89 | 96 | 269 | 7.8 | 0.75 | |
| V1229G-N1231T-P1266L | BS (3) | 32 | F | 4 | 9.30 | 0.60 | 54 | 0.84 | 56 | 172 | 8.5 | 0.55 |
| BR (3) | 49 | M | 0 | 6.00 | 0.50 | 76 | 1.03 | 78 | 216 | 8.1 | NT | |
| BA (3) | 59 | M | 2 | 4.00 | 0.50 | 66 | 1.12 | 76 | 225 | 7.9 | 1.09 | |
| BR (3) | 84 | M | 0 | NT | 0.60 | 105 | 0.98 | 125 | 302 | 8.3 | NT | |
| P1266L | TE (4) | 46 | F | 6 | 3.0 | 0.40 | 45 | 0.76 | 57 | 251 | 7.6 | 0.40 |
| SL (4) | 11 | F | 2 | NT | 0.50 | 53 | 0.99 | 60 | 285 | 8.3 | 0.49 | |
| R1308L | TA (5) | 18 | F | 3 | 8.00 | 0.40 | 49 | 0.96 | 57 | 401 | 8.1 | 0.70 |
| CR (5) | 46 | F | 16 | 8.00 | 0.50 | 38 | 1.01 | 48 | 193 | 8.6 | NT | |
| CD (5) | 49 | F | 2 | 7.00 | 0.80 | 39 | 1.08 | 35 | 401 | 8.1 | 0.32 | |
| CI (5) | 36 | M | 3 | 5.30 | 0.30 | 25 | 1.12 | 47 | 236 | 8.7 | NT | |
| CMG (5) | 50 | F | 0 | NT | 0.50 | 48 | 1.10 | 76 | 261 | 8.5 | 0.5 | |
| CP (5) | 30 | M | 3 | 5.00 | 0.50 | 25 | 1.12 | 44 | 275 | 8.2 | 0.40 | |
| Total | 16 (5) | 46 (11-84) | 8-8 | 2 (0-16) | 6.00 (3.00-9.30) | 0.50 (0.30-0.80) | 46.5 (21-105) | 0.99 (0.66-1.12) | 57 (35-125) | 265 (172-401) | 8.2 (7.6-8.7) | 0.59 (0.32-1.09) |
| Mutation . | Initials (no. of families) . | Age, y . | Sex, F-M . | Bleeding severity score . | BT, minutes . | RIPA, mg/mL . | VWF:RCo, U/dL . | VWF:RCo/Ag, ratio . | FVIII, U/dL . | Platelet count at baseline, ×103/μL . | MPV, fl . | VWF–GPIb-α/BC . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N1231T/P1266Q | NP (1) | 46 | F | 2 | NT | 0.70 | 25 | 0.66 | 62 | 353 | NT | 0.62 |
| PV (1) | 21 | M | 0 | NT | 0.60 | 21 | 0.70 | 54 | 217 | 8.4 | 0.84 | |
| GM (2) | 19 | M | 0 | NT | 0.80 | 39 | 0.97 | 39 | 308 | NT | 0.65 | |
| GF (2) | 52 | M | 1 | NT | 0.40 | 101 | 0.89 | 96 | 269 | 7.8 | 0.75 | |
| V1229G-N1231T-P1266L | BS (3) | 32 | F | 4 | 9.30 | 0.60 | 54 | 0.84 | 56 | 172 | 8.5 | 0.55 |
| BR (3) | 49 | M | 0 | 6.00 | 0.50 | 76 | 1.03 | 78 | 216 | 8.1 | NT | |
| BA (3) | 59 | M | 2 | 4.00 | 0.50 | 66 | 1.12 | 76 | 225 | 7.9 | 1.09 | |
| BR (3) | 84 | M | 0 | NT | 0.60 | 105 | 0.98 | 125 | 302 | 8.3 | NT | |
| P1266L | TE (4) | 46 | F | 6 | 3.0 | 0.40 | 45 | 0.76 | 57 | 251 | 7.6 | 0.40 |
| SL (4) | 11 | F | 2 | NT | 0.50 | 53 | 0.99 | 60 | 285 | 8.3 | 0.49 | |
| R1308L | TA (5) | 18 | F | 3 | 8.00 | 0.40 | 49 | 0.96 | 57 | 401 | 8.1 | 0.70 |
| CR (5) | 46 | F | 16 | 8.00 | 0.50 | 38 | 1.01 | 48 | 193 | 8.6 | NT | |
| CD (5) | 49 | F | 2 | 7.00 | 0.80 | 39 | 1.08 | 35 | 401 | 8.1 | 0.32 | |
| CI (5) | 36 | M | 3 | 5.30 | 0.30 | 25 | 1.12 | 47 | 236 | 8.7 | NT | |
| CMG (5) | 50 | F | 0 | NT | 0.50 | 48 | 1.10 | 76 | 261 | 8.5 | 0.5 | |
| CP (5) | 30 | M | 3 | 5.00 | 0.50 | 25 | 1.12 | 44 | 275 | 8.2 | 0.40 | |
| Total | 16 (5) | 46 (11-84) | 8-8 | 2 (0-16) | 6.00 (3.00-9.30) | 0.50 (0.30-0.80) | 46.5 (21-105) | 0.99 (0.66-1.12) | 57 (35-125) | 265 (172-401) | 8.2 (7.6-8.7) | 0.59 (0.32-1.09) |
Continuous variables are expressed as median (range). MPV indicates mean platelet volume; and NT, not tested. Families are denoted by initials.