Blood parameters and clinical data of members of the reported families
| Pedigree . | Case . | Age, y . | WBC × 109/L . | RBC × 1012/L . | Hb, g/dL . | Hct (%) . | Platelets × 109/L . | MPV (fL) . | ISTH-BAT . | IPF (%) . |
|---|---|---|---|---|---|---|---|---|---|---|
| A | I.1 | 75 | 6.57 | 4.97 | 14.3 | 42.5 | 84 | NR | 0 | ND |
| II.1 | 49 | 5.92 | 5.79 | 16.2 | 46.9 | 153 | 13.3 | 0 | ND | |
| II.2 | 43 | 6.08 | 4.56 | 13.7 | 39.5 | 124 | NR | 0 | ND | |
| B | II.1 | 74 | 7.4 | 3.82 | 11.1 | 34.3 | 65 | 13.4 | 2 | ND |
| C | II.1 | 21 | 5.19 | 4.64 | 14.2 | 41.1 | 70 | 14 | 2 | ND |
| D | I.1 | 54 | 5.9 | 4.78 | 14.1 | 43 | 110 | 14.5 | 1 | ND |
| II.1 | 14 | 3.05 | 3.78 | 11.6 | 35.5 | 85 | 15 | 2 | ND | |
| E | I.2 | 85 | 6 | 4.93 | 14.6 | 43.2 | 115 | 15 | 2 | ND |
| II.1 | 51 | 9.13 | 4.24 | 13 | 38.3 | 116 | 14.5 | 5 | ND | |
| III.1 | 21 | 7.6 | 4.94 | 14.2 | 42.2 | 131 | 12.4 | 3 | ND | |
| III.2 | 22 | 8.97 | 4.65 | 12.9 | 38.9 | 123 | 14.1 | 5 | ND | |
| F | II.1 | 65 | 5.45 | 4.74 | 13.5 | 41.2 | 134 | NR | 8 | 22.70 |
| II.2 | 65 | 10.15 | 4.87 | 15.7 | 47.5 | 100 | 12.4 | 0 | ND | |
| II.3 | 62 | 7.42 | 4.65 | 14.2 | 42.3 | 175 | 12.3 | 0 | ND | |
| III.1 | 31 | 7.19 | 4.68 | 13 | 39.2 | 118 | NR | 4 | 23.40 | |
| III.2 | 27 | 5.15 | 5.27 | 14.3 | 44.8 | 233 | 11.3 | 0 | 4.30 | |
| III.3 | 21 | 10.42 | 4.12 | 12.4 | 37.4 | 214 | 12.2 | 0 | 8.60 | |
| G | II.1 | 59 | 2.14 | 4.82 | 14.2 | 44.1 | 82 | 13.3 | 0 | ND |
| II.2 | 60 | 5.34 | 5.49 | 16 | 49.3 | 153 | 12.7 | 0 | ND | |
| III.1 | 36 | 5.74 | 4.89 | 15 | 46.9 | 69 | NR | 7 | ND | |
| III.2 | 4 | 5.4 | 5.21 | 16.3 | 51.8 | 261 | 10.7 | 0 | ND | |
| H | II.1 | 65 | 5.75 | 4.67 | 14.9 | 42.6 | 82 | NR | 0 | 24.00 |
| II.2 | 58 | 6.02 | 5.39 | 16.6 | 47.2 | 133 | 13.8 | 0 | 14.00 | |
| II.3 | 63 | 6.58 | 4.58 | 15.3 | 42.7 | 252 | 11.2 | 0 | 6.40 | |
| II.4 | 61 | 5.74 | 4.47 | 15.2 | 42.5 | 202 | 10.8 | 0 | 4.10 | |
| III.1 | 39 | 4.6 | 4.57 | 15.8 | 42.8 | 106 | 13.8 | 0 | ND | |
| III.3 | 24 | 6.28 | 4.72 | 14.5 | 41.6 | 104 | NR | 1 | ND | |
| III.4 | 27 | 5.78 | 5.34 | 16.5 | 46.6 | 202 | 11.8 | 0 | ND | |
| III.5 | 34 | 5.97 | 5.18 | 16.3 | 43.8 | 229 | 11.3 | 0 | ND | |
| III.7 | 22 | 6.33 | 4.89 | 15.2 | 43.2 | 264 | 10.2 | 0 | ND | |
| I | I.1 | 89 | 8.4 | 5.2 | 14.3 | 45 | 143 | 13.7 | 0 | ND |
| I.2 | 83 | 8 | 5.1 | 13.6 | 43.1 | 166 | NR | 0 | ND | |
| II.1 | 55 | 5.8 | 5.1 | 14.3 | 45 | 58 | NR | 0 | 37.30 | |
| II.2 | 51 | 10.6 | 7.1 | 16.9 | 53.3 | 57 | NR | 0 | 30.00 | |
| II.3 | 53 | 7.2 | 6.3 | 13.8 | 43.1 | 179 | 13.4 | 0 | 13.20 | |
| II.4 | 49 | 7.4 | 5.6 | 11.1 | 36 | 230 | NR | 0 | 10.30 | |
| III.1 | 19 | 4.7 | 4 | 11.6 | 35.8 | 205 | 12.4 | 0 | ND | |
| III.2 | 22 | 5.2 | 4.4 | 12.5 | 37.5 | 168 | 13.7 | 0 | ND |
| Pedigree . | Case . | Age, y . | WBC × 109/L . | RBC × 1012/L . | Hb, g/dL . | Hct (%) . | Platelets × 109/L . | MPV (fL) . | ISTH-BAT . | IPF (%) . |
|---|---|---|---|---|---|---|---|---|---|---|
| A | I.1 | 75 | 6.57 | 4.97 | 14.3 | 42.5 | 84 | NR | 0 | ND |
| II.1 | 49 | 5.92 | 5.79 | 16.2 | 46.9 | 153 | 13.3 | 0 | ND | |
| II.2 | 43 | 6.08 | 4.56 | 13.7 | 39.5 | 124 | NR | 0 | ND | |
| B | II.1 | 74 | 7.4 | 3.82 | 11.1 | 34.3 | 65 | 13.4 | 2 | ND |
| C | II.1 | 21 | 5.19 | 4.64 | 14.2 | 41.1 | 70 | 14 | 2 | ND |
| D | I.1 | 54 | 5.9 | 4.78 | 14.1 | 43 | 110 | 14.5 | 1 | ND |
| II.1 | 14 | 3.05 | 3.78 | 11.6 | 35.5 | 85 | 15 | 2 | ND | |
| E | I.2 | 85 | 6 | 4.93 | 14.6 | 43.2 | 115 | 15 | 2 | ND |
| II.1 | 51 | 9.13 | 4.24 | 13 | 38.3 | 116 | 14.5 | 5 | ND | |
| III.1 | 21 | 7.6 | 4.94 | 14.2 | 42.2 | 131 | 12.4 | 3 | ND | |
| III.2 | 22 | 8.97 | 4.65 | 12.9 | 38.9 | 123 | 14.1 | 5 | ND | |
| F | II.1 | 65 | 5.45 | 4.74 | 13.5 | 41.2 | 134 | NR | 8 | 22.70 |
| II.2 | 65 | 10.15 | 4.87 | 15.7 | 47.5 | 100 | 12.4 | 0 | ND | |
| II.3 | 62 | 7.42 | 4.65 | 14.2 | 42.3 | 175 | 12.3 | 0 | ND | |
| III.1 | 31 | 7.19 | 4.68 | 13 | 39.2 | 118 | NR | 4 | 23.40 | |
| III.2 | 27 | 5.15 | 5.27 | 14.3 | 44.8 | 233 | 11.3 | 0 | 4.30 | |
| III.3 | 21 | 10.42 | 4.12 | 12.4 | 37.4 | 214 | 12.2 | 0 | 8.60 | |
| G | II.1 | 59 | 2.14 | 4.82 | 14.2 | 44.1 | 82 | 13.3 | 0 | ND |
| II.2 | 60 | 5.34 | 5.49 | 16 | 49.3 | 153 | 12.7 | 0 | ND | |
| III.1 | 36 | 5.74 | 4.89 | 15 | 46.9 | 69 | NR | 7 | ND | |
| III.2 | 4 | 5.4 | 5.21 | 16.3 | 51.8 | 261 | 10.7 | 0 | ND | |
| H | II.1 | 65 | 5.75 | 4.67 | 14.9 | 42.6 | 82 | NR | 0 | 24.00 |
| II.2 | 58 | 6.02 | 5.39 | 16.6 | 47.2 | 133 | 13.8 | 0 | 14.00 | |
| II.3 | 63 | 6.58 | 4.58 | 15.3 | 42.7 | 252 | 11.2 | 0 | 6.40 | |
| II.4 | 61 | 5.74 | 4.47 | 15.2 | 42.5 | 202 | 10.8 | 0 | 4.10 | |
| III.1 | 39 | 4.6 | 4.57 | 15.8 | 42.8 | 106 | 13.8 | 0 | ND | |
| III.3 | 24 | 6.28 | 4.72 | 14.5 | 41.6 | 104 | NR | 1 | ND | |
| III.4 | 27 | 5.78 | 5.34 | 16.5 | 46.6 | 202 | 11.8 | 0 | ND | |
| III.5 | 34 | 5.97 | 5.18 | 16.3 | 43.8 | 229 | 11.3 | 0 | ND | |
| III.7 | 22 | 6.33 | 4.89 | 15.2 | 43.2 | 264 | 10.2 | 0 | ND | |
| I | I.1 | 89 | 8.4 | 5.2 | 14.3 | 45 | 143 | 13.7 | 0 | ND |
| I.2 | 83 | 8 | 5.1 | 13.6 | 43.1 | 166 | NR | 0 | ND | |
| II.1 | 55 | 5.8 | 5.1 | 14.3 | 45 | 58 | NR | 0 | 37.30 | |
| II.2 | 51 | 10.6 | 7.1 | 16.9 | 53.3 | 57 | NR | 0 | 30.00 | |
| II.3 | 53 | 7.2 | 6.3 | 13.8 | 43.1 | 179 | 13.4 | 0 | 13.20 | |
| II.4 | 49 | 7.4 | 5.6 | 11.1 | 36 | 230 | NR | 0 | 10.30 | |
| III.1 | 19 | 4.7 | 4 | 11.6 | 35.8 | 205 | 12.4 | 0 | ND | |
| III.2 | 22 | 5.2 | 4.4 | 12.5 | 37.5 | 168 | 13.7 | 0 | ND |
Index cases in each pedigree are highlighted in bold. Underlined cases are non carriers of β1-tubulin variants. Normal range in healthy subjects from our cohort (n = 107): platelets, 142 to 359 × 109/L; and MPV, 9 to 12.8 fL. The IPF (%) in control subjects (n = 6), assayed in parallel with patients, ranged from 2.30 to 3.30. Hb, hemoglobin; Hct, hematocrit; ND, not determined; NR, not recorded; RBC, red blood cells; WBC, white blood cells.