Clinical and hematological characteristics
| Identity . | Bleeding symptoms . | Erythrocyte count (normal: 4 × 106/μL to 5.2 × 106/μL) . | Red cell distribution width (normal: 11.7% -14.5%) . | Mean corpus volume (normal: 77-95 fL) . | Platelet count (normal: 150 × 109/L to 450 × 109/L) . | Mean platelet volume (normal: 8-12 fL) . | Immature platelet fraction (normal: 1.1% -6.1%) . | Platelet aggregation defect (amplitude <50%) for the indicated agonist . | ATP secretion (normal: 1.2-2.8 μM) . | Flow cytometry for CD62P with MFI basal (normal: 97-196) and after activation with 1 μg/mL convulxin (normal: 305-1606) and 50 μg/mL collagen (normal: 1254-3169) . | Flow cytometry for CD63 with MFI basal (normal: 45-86) and after activation with 1 μg/mL convulxin (normal: 73-121) and 50 μg/mL collagen (normal: 358-507) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| II.1 | Mild mucocutaneous bleeding symptoms | 4.4 | 17.7 | 88 | 53 | NR∗ | NA | NA | NA | NA | NA |
| II.3 | Mild mucocutaneous bleeding symptoms | 4.5 | 18.5 | 87 | 49 | NR∗ | NA | NA | NA | NA | NA |
| III.1 | Mucocutaneous bleeding symptoms (epistaxis, hematomas) | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| III.2 | Mucocutaneous bleeding symptoms (epistaxis, hematomas) | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| III.3 | No bleeding symptoms | 4.8, 4.9 | NA | 90, 91 | 360, 275 | 8.98, NA | NA | NA | NA | NA | NA |
| III.4 | Mild mucocutaneous bleeding symptoms | 5.1, 5.8, 5.38 | 16.3, 19.9, 17.4 | 62.6, 76.7, 71.9 | 120, 124, 112 | NR∗,, 12.1, NR∗ | 9.4, 15.7 | 5 μM ADP, 1 μg/mL collagen | 1.7 | Basal: 54 Convulxin: 234 Collagen: 431 | Basal: 86 Convulxin: 96 Collagen: 169 |
| IV.1 | Bleeding after surgery and tooth extraction, oral cavity bleeding, or mucocutaneous bleeding symptoms | 5.5, 5.5 | 15.9, 15.7 | 80.3, 79.4 | 102, 78 | NR∗, 11.9 | 6.9 | 5 μM ADP, 1 μg/mL collagen | 0.7, 0.44, 1.0, 1.2, 1.26 | NA | NA |
| IV.2 | Mild mucocutaneous bleeding symptoms | 5.8, 5.9, 6.2, 6.48 | 15.2, 14.7, 15.6, 17.1 | 68, 68, 79, 75.9 | 135, 125, 84, 84 | NR∗,, NR∗,, 12.8, NR∗ | 13.1, 7.7, 24.1 | 5 μM ADP, 1 μg/mL collagen | 2 | Basal: 51 Convulxin: 125 Collagen: 864 | Basal: 75 Convulxin: 88 Collagen: 155 |
| IV.3 | No bleeding symptoms | 4.6 | 14.0 | 80 | 359 | 8.09 | NA | NA | NA | NA | NA |
| Identity . | Bleeding symptoms . | Erythrocyte count (normal: 4 × 106/μL to 5.2 × 106/μL) . | Red cell distribution width (normal: 11.7% -14.5%) . | Mean corpus volume (normal: 77-95 fL) . | Platelet count (normal: 150 × 109/L to 450 × 109/L) . | Mean platelet volume (normal: 8-12 fL) . | Immature platelet fraction (normal: 1.1% -6.1%) . | Platelet aggregation defect (amplitude <50%) for the indicated agonist . | ATP secretion (normal: 1.2-2.8 μM) . | Flow cytometry for CD62P with MFI basal (normal: 97-196) and after activation with 1 μg/mL convulxin (normal: 305-1606) and 50 μg/mL collagen (normal: 1254-3169) . | Flow cytometry for CD63 with MFI basal (normal: 45-86) and after activation with 1 μg/mL convulxin (normal: 73-121) and 50 μg/mL collagen (normal: 358-507) . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| II.1 | Mild mucocutaneous bleeding symptoms | 4.4 | 17.7 | 88 | 53 | NR∗ | NA | NA | NA | NA | NA |
| II.3 | Mild mucocutaneous bleeding symptoms | 4.5 | 18.5 | 87 | 49 | NR∗ | NA | NA | NA | NA | NA |
| III.1 | Mucocutaneous bleeding symptoms (epistaxis, hematomas) | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| III.2 | Mucocutaneous bleeding symptoms (epistaxis, hematomas) | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA |
| III.3 | No bleeding symptoms | 4.8, 4.9 | NA | 90, 91 | 360, 275 | 8.98, NA | NA | NA | NA | NA | NA |
| III.4 | Mild mucocutaneous bleeding symptoms | 5.1, 5.8, 5.38 | 16.3, 19.9, 17.4 | 62.6, 76.7, 71.9 | 120, 124, 112 | NR∗,, 12.1, NR∗ | 9.4, 15.7 | 5 μM ADP, 1 μg/mL collagen | 1.7 | Basal: 54 Convulxin: 234 Collagen: 431 | Basal: 86 Convulxin: 96 Collagen: 169 |
| IV.1 | Bleeding after surgery and tooth extraction, oral cavity bleeding, or mucocutaneous bleeding symptoms | 5.5, 5.5 | 15.9, 15.7 | 80.3, 79.4 | 102, 78 | NR∗, 11.9 | 6.9 | 5 μM ADP, 1 μg/mL collagen | 0.7, 0.44, 1.0, 1.2, 1.26 | NA | NA |
| IV.2 | Mild mucocutaneous bleeding symptoms | 5.8, 5.9, 6.2, 6.48 | 15.2, 14.7, 15.6, 17.1 | 68, 68, 79, 75.9 | 135, 125, 84, 84 | NR∗,, NR∗,, 12.8, NR∗ | 13.1, 7.7, 24.1 | 5 μM ADP, 1 μg/mL collagen | 2 | Basal: 51 Convulxin: 125 Collagen: 864 | Basal: 75 Convulxin: 88 Collagen: 155 |
| IV.3 | No bleeding symptoms | 4.6 | 14.0 | 80 | 359 | 8.09 | NA | NA | NA | NA | NA |
Boldface indicates values outside the reference range.
ADP, adenosine diphosphate; MFI, mean fluorescent intensity; NA, not applicable; NR, not reported.
NR outside the upper limit of measurement because of the overlap with small erythrocytes.