Clinical parameters probands
| . | Proband 1 . | Proband 2 . | Reference . |
|---|---|---|---|
| Current age, y | 20 | 17 | |
| ISTH-BAT | 29 | 27 | <6 |
| Platelet count (109/L)* | 13 | 14 | 150-450 |
| MPV (fL) | 18 | 21.2 | 7.0-9.5 |
| TPO (E/mL) | 8 | 17 | 4-32 |
| vWF:RCo (IU/dL) | 137 | 121 | 40-150 |
| Hb (mmol/L) | 8.5 | 8.3 | 7.4-9.6 |
| RBC (1012/L) | 4.6 | 4.8 | 3.7-5 |
| WBC (109/L) | 6.5 | 4.7 | 4-10 |
| Urinary sialic acid (mmol/mol creatinine) | 30 | 35 | 19-43 |
| Sialylation APOCIII | Normal | Normal | |
| Sialylation transferrin | Normal | Normal |
| . | Proband 1 . | Proband 2 . | Reference . |
|---|---|---|---|
| Current age, y | 20 | 17 | |
| ISTH-BAT | 29 | 27 | <6 |
| Platelet count (109/L)* | 13 | 14 | 150-450 |
| MPV (fL) | 18 | 21.2 | 7.0-9.5 |
| TPO (E/mL) | 8 | 17 | 4-32 |
| vWF:RCo (IU/dL) | 137 | 121 | 40-150 |
| Hb (mmol/L) | 8.5 | 8.3 | 7.4-9.6 |
| RBC (1012/L) | 4.6 | 4.8 | 3.7-5 |
| WBC (109/L) | 6.5 | 4.7 | 4-10 |
| Urinary sialic acid (mmol/mol creatinine) | 30 | 35 | 19-43 |
| Sialylation APOCIII | Normal | Normal | |
| Sialylation transferrin | Normal | Normal |
Hb, hemoglobin; ISTH-BAT, bleeding assessment tool of the International Society on Thrombosis and Haemostasis; MPV, mean platelet volume; RBC, red blood cell; TPO, thrombopoietin; vWF:RCo, von Willebrand factor-ristocetin cofactor activity; WBC, white blood cell.
Platelet counts were measured with the CD61 method on a CELL-DYN Sapphire hematology analyzer (Abbott Laboratories, Abbott Park, IL).