Table 1. Summary of the bleeding scores and the PLT counts and indexes, function assays and GP levels in GTLS patients and healthy relatives.
| GTLS patients(F1-F10) (n = 33) | GTLS patients (F1-F6) (n = 19) | GTLS patients (F7-F10) (n = 14) | Healthy relatives(n = 11) | |
|---|---|---|---|---|
| Bleeding Score (ISTH-BAT) | ||||
| BS | 4 (0–14) | 7 (3–14) | 2 (0–5) | 0 (0–3) |
| 4±3 | 6±3 | 2±2 | 1±1 | |
| Abnormal BS | 10/29 (34%) | 10/16 (63%) | 0/13 (0%) | 0/5 (0%) |
| Platelet count, x109/L | ||||
| 150–450 | 90 (47–194) | 74 (47–108) | 116 (48–194) | 246 (163–425) |
| 96±38 | 76±17 | 124±40 | 252±74 | |
| <150 | 30/33 (91%) | 19/19 (100%) | 11/14 (79%) | 0/11 (0%) |
| <100 | 22/30 (67%) | 18/19 (95%) | 4/14 (29%) | 0/11 (0%) |
| <50 | 3/33 (9%) | 2/19 (11%) | 1/14 (7%) | 0/11 (0%) |
| Platelet indexes | ||||
| Mean Platelet Volume (MPV), fL | ||||
| [7–11] | 13 (10–19) | 13 (11–19) | 13 (10–19) | 8 (6–14) |
| 13±2 | 13±2 | 13±2 | 9±3 | |
| >11 | 28/32 (88%) | 16/18 (89%) | 12/14 (86%) | 3/9 (33%) |
| Platelet Distribution Width (PDW), % | ||||
| [9–14] | 18 (13–35) | 21 (14–35) | 17 (13–20) | 16 (14–21) |
| 19±4 | 20±5 | 17±2 | 16±3 | |
| > 14 | 25/27 (93%) | 14/15 (93%) | 11/12 (92%) | 4/5 (80%) |
| Immature Platelet Fraction (IPF), % | ||||
| [1–7] | 12 (4–36) | 13 (5–35) | 9 (4–36) | 8 (5–14) |
| 14±8 | 15±7 | 13±9 | 9±4 | |
| > 7 | 24/29 (83%) | 14/16 (88%) | 10/13 (77%) | 2/3 (67%) |
| Platelet Function Assays (PFA) | ||||
| COL/ADP Closure Time, seconds | ||||
| [56–120] | 110 (56–245) | 133 (72–245) | 89 (56–121) | NA |
| 120±45 | 141±48 | 92±19 | NA | |
| > 120 | 12/29 (41%) | 11/17 (65%) | 1/12 (8%) | NA |
| COL/EPI Closure Time, seconds | ||||
| [88–146] | 125 (72–300) | 144 (100–300) | 103 (72–300) | NA |
| 147±69 | 166±68 | 120±62 | NA | |
| > 150 | 10/29 (34%) | 8/17 (47%) | 2/12 (17%) | NA |
| Platelet glycoproteins (GP) | ||||
| CD41a (GPIIb/IIIa), % normal | ||||
| [85–115] | 49 (32–83) | 45 (32–52) | 75 (52–83) | 91 (73–116) |
| 56±16 | 44±5 | 72±9 | 91±13 | |
| <85 | 33/33 (100%) | 19/19 (100%) | 14/14 (100%) | 4/11 (36%) |
| CD61 (GPIIIa), % normal | ||||
| [80–120] | 56 (35–86) | 46 (35–57) | 76 (58–86) | 96 (75–110) |
| 59±16 | 47±6 | 75±8 | 94±11 | |
| <80 | 29/33 (88%) | 21/21 (100%) | 10/14 (71%) | 1/11 (9%) |
| CD42b (GPIb), % normal | ||||
| [70–130] | 105 (82–222) | 105 (82–222) | 107 (93–129) | 94 (62–118) |
| 112±28 | 116±36 | 108±10 | 94±14 | |
| >130 | 5/32 (16%) | 5/18 (28%) | 0/14 (0%) | 0/11 (0%) |
Abbreviations: BS, Bleeding score; COL/ADP, collagen / ADP; COL/EPI, collagen / epinephrine; GP, glycoprotein; GTLS, Glanzmann Thrombasthenia like syndrome; ISTH-BAT, International Society on Thrombosis and Hemostasis–Bleeding Assessment Tool; PLT, platelets; Results are presented as median (minimum–maximum) values, and mean ± one standard deviation, as well as absolute and relative frequencies (percentage of cases) fulfilling the mentioned criteria. Normal reference values are indicated between square brackets.
BS (ISTH-BAT): the cut-off used for an abnormal BS was ≥4 in adult males, ≥6 in adult females and ≥3 in children [29].