Table 1. Main haemostatic findings of the type 2B VWD patients studied showing abnormal VWF multimer pattern.
| Patients | Family | Sex/Age | Blood Group | Platelet count x103/μl |
PFA 100 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/3 | B | 290 | >264 | NA | NA | 41.0 | 4.4 | 0.11 | 13.2 | 0.33 | 76.4 | 36.1 | NA | p.R1308C |
| 2 | A | M/78 | O | 119 | >300 | 7 | 0.75 | 44.7 | 11.8 | 0.27 | 28.4 | 0.63 | 115 | 48.2 | 1 | p.R1308C |
| 3 | A | F/38 | A | 207 | >300 | 0 | 0.45 | 67.9 | 3.6 | 0.06 | 33.1 | 0.48 | 128 | 54.5 | 10 | p.R1308C |
| 4 | A | M/43 | A | 163 | >300 | 0 | 0.6 | 42.8 | 10.6 | 0.25 | 25.2 | 0.58 | 132.7 | 47.1 | 10 | p.R1308C |
| 5 | B | M/26 | O | 176 | >300 | 8 | 0.6 | 17.6 | 9.2 | 0.52 | 10.4 | 0.59 | 76.6 | 38.8 | 8 | p.R1308C |
| 6 | B | M/15 | A | 180 | >300 | 0 | 0.6 | 30.9 | 12.5 | 0.41 | 11.4 | 0.37 | 79.1 | 49.3 | 4 | p.R1308C |
| 7 | B | M/81 | A | 165 | >300 | NA | 0.6 | 166.4 | 30.0 | 0.18 | 112.0 | 0.67 | NA | 136.0 | NA | p.R1308C |
| 8 | B | F/49 | A | 178 | >300 | 9.5 | 0.75 | 23.0 | 4.2 | 0.19 | 13.8 | 0.63 | 74.0 | 50.0 | 12 | p.R1308C |
| 9 | B | M/71 | O | 56 | >300 | 22 | 0.3 | 81.2 | 25.9 | 0.32 | 33.75 | 0.41 | 146.2 | 52 | NA | p.R1308C |
| 10 | C | F/70 | O | 168 | >300 | 15 | 0.75 | 44.6 | 10.3 | 0.23 | 21.4 | 0.47 | 202.0 | 53.2 | 15 | p.R1308C |
| 11 | C | M/80 | O | 182 | >300 | 0 | 0.45 | 39.5 | 9.3 | 0.24 | 23.3 | 0.59 | 113.90 | 52.1 | 14 | p.R1308C |
| 12 | C | F/60 | O | 154 | >300 | NA | 0.75 | 44.6 | 8.1 | 0.18 | 23.0 | 0.51 | 127 | 68.0 | 18 | p.R1308C |
| 13 | C | M/37 | O | 132 | >300 | 0 | 0.6 | 51.9 | 10.6 | 0.20 | 25.2 | 0.48 | 133.4 | 34.5 | 17 | p.R1308C |
| 14 | C | M/39 | O | 210 | >300 | 0 | 0.6 | 61.3 | 10.4 | 0.17 | 18.5 | 0.3 | 119 | 40.0 | 6 | p.R1308C |
| 15 | C | F/14 | O | 126 | >300 | 0 | 0.45 | 35.0 | 4.0 | 0.11 | 12.7 | 0.38 | 141 | 46.0 | 6 | p.R1308C |
| 16 | D | M/67 | O | 60 | >300 | 20 | 0.15 | 34.3 | 10.5 | 0.31 | 14.0 | 0.41 | 142.50 | 43.5 | 20 | p.V1316M |
| 17 | E | F/24 | O | 65 | >300 | 22.5 | 0.15 | 35.9 | 15.6 | 0.44 | 14.4 | 0.40 | 140.3 | 35.9 | 13 | p.V1316M |
| 18 | E | F/1 | O | 28 | >300 | NA | NA | 142.9 | 97.0 | 0.68 | 102.7 | 0.72 | 135 | 98.1 | NA | p.V1316M |
| 19 | F | M/44 | O | 116 | >300 | 15.7 | 0.3 | 44.7 | 11.8 | 0.48 | 11.4 | 0.71 | 130 | 27.7 | 10 | p.R1306W |
| 20 | G | M/58 | B | 213 | >300 | 12.6 | 0.3 | 48.4 | 4.6 | 0.10 | 13.5 | 0.28 | 175 | 56.4 | 17 | p.R1308C |
| 21 | H | M/40 | A | 158 | >300 | NA | 0.45 | 32.5 | 14.7 | 0.45 | 18.7 | 0.59 | 130 | 39.0 | NA | p.R1306W |
| 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