Table 2 Patient’s bleeding score, clotting factor and aggregation data
From: RASopathies and hemostatic abnormalities: key role of platelet dysfunction
Patient | Gene | Bleeding score* | Clotting factor (% of normal) | Platelet response to** | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
V | VII | X | XIII | ADP | Collagen | Ristocetin | AA | |||
1 | SOS1 | 7 | 67 | 48 | 64 | 47 | 2.8 | 0.8 | 1.1 | 0.4 |
2 | SOS1 | 4 | 83.2 | 61 | 87 | 94.4 | 2.8 | 0.4 | 1.1 | 0.4 |
3 | SOS1 | 3 | 55 | 81 | 76 | 73 | ||||
4 | PTPN11 | 3 | 83 | 47.7 | 57 | 42 | 4 | 4 | 1.5 | 1 |
5 | PTPN11 | 3 | 78.6 | 52 | 60 | 46 | 4 | 0.8 | 1.1 | 0.4 |
6 | PTPN11 | 5 | 54 | 46 | 55 | 6 | 2 | 1.5 | 0.4 | |
7 | PTPN11 | 3 | 75 | 57 | 88 | 71 | 5 | 2 | 2 | 0.5 |
8 | BRAF | 3 | 85 | 58.5 | 74 | 29 | 1.2 | 0.4 | 1.1 | 0.4 |
9 | MAP2K1 | 3 | 78 | 72 | 2 | 2 | 1.1 | 0.4 | ||
10 | PTPN11 | 3 | 81 | 36 | 78 | 74 | 4 | 0.8 | 1.1 | 0.4 |
11 | PTPN11 | 3 | 58 | 60.2 | 47.4 | 6 | 0.8 | 1.5 | 0.5 | |
12 | RIT1 | 3 | 50.2 | 46 | 50 | 50 | 5 | 0.8 | 1.5 | |
13 | RIT1 | 3 | 55 | 44 | 50.5 | 5 | 1.2 | 1.2 | 0.5 | |
14 | PTPN11 | 3 | 117 | 86 | 62 | 4 | 0.4 | 1.1 | 0.4 | |