Table 2. Main haemostatic pattern of the type 2B VWD patients studied characterized by normal VWF multimer pattern.
| Patients | Family | Sex/Age | Blood Group | Platelet count x103/μl |
PFA100 sec |
*SPA % |
§MADR mg/mL |
VWF:Ag U/dL |
VWF:CB U/dL |
VWF:CB ratio |
VWF:RCo U/dL |
VWF:RCo ratio |
Platelet VWF U/dL |
FVIII U/dL |
BAT (F/M) |
VWF mutations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | A | F/48 | A | 232 | NA | 12 | 0.45 | 160.6 | 135.6 | 0.84 | 132.8 | 0.83 | 92.0 | 78.0 | 6 | p.I1372S |
| 2 | A | F/75 | A | 322 | NA | 10 | 0.6 | 133 | 144.2 | 1.1 | 106 | 0.79 | 129.5 | 126 | 3 | p.I1372S |
| 3 | B | M/45 | O | 204 | >300 | 0 | 0.45 | 23.4 | 21.1 | 0.9 | 17.2 | 0.74 | 42.6 | 60.5 | 20 | p.P1266L/ p.C2362F |
| 4 | C | F/76 | O | 236 | >300 | 8.4 | 0.75 | 35.4 | 37.3 | 1.05 | 25.4 | 0.72 | 66.8 | 32.0 | 16 | p.R1379C |
| 5 | C | F/50 | O | 211 | 210 | 10 | 0.6 | 40.6 | 42.8 | 1.1 | NA | NA | 41.2 | 62.8 | 8 | p.R1379C |
| 6 | C | M/53 | O | 193 | 199 | 5.2 | 0.75 | 47.1 | 44.6 | 0.94 | 38.0 | 0.80 | 47.4 | 43.8 | 0 | p.R1379C |
| 7 | C | F/21 | O | 293 | >300 | 6 | 0.6 | 26.7 | 27.2 | 1.01 | 24.8 | 0.92 | 59.1 | 40.9 | 6 | p.R1379C |
| 8 | D | M/49 | A | 252 | 175 | 0 | 0.6 | 54.3 | 55.1 | 1.01 | 51.6 | 0.94 | 60.3 | 62.2 | NA | p.P1266Q/ p.R1379C |
| 9 | D | M/18 | A | 231 | 95 | 0 | 0.75 | 151.1 | 175.5 | 1.16 | 153.5 | 0.87 | 95.2 | 148.2 | NA | p.P1266Q |
| 10 | D | F/24 | AB | 231 | 223 | 6 | 0.75 | 46.0 | 49.1 | 1.07 | 40.5 | 0.83 | 55.6 | 64.8 | NA | p.R1379C |
| 11 | E | M/11 | O | 220 | >300 | 11.3 | 0.3 | 28.8 | 28.4 | 0.98 | 23.0 | 0.80 | 54.1 | 51.5 | 5 | p.R1341W |
| 12 | F | F/50 | A | 204 | 91 | 10 | 0.45 | 108 | 101.9 | 0.94 | 97.7 | 0.91 | 136.4 | 107.5 | 16 | p.P1266L |
| Normal range | 150–350 | 94–193 | 0 | ≥1.0 | 60–160 | 65–150 | ≥0.75 | 60–130 | ≥0.75 | 70–140 | 60–160 | 0-5/0-3 |
*Spontaneous platelet aggregation
§Minimal aggregating dose ristocetin
VWF:CB/VWF:Ag ratio
VWF:RCo/VWF:Ag ratio
NA: not assessed.