Main clinical and hematological features of the investigated family
| Subject . | PTPRJ genotype . | Gender/age, y . | Platelets, ×109/L . | MPV, fL* . | Hgb, g/dL . | MCV, fL . | WBC, ×109/L . | Neu, ×109/L . | ISTH BAT score† . | Bleeding episodes . | Other findings . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| II-1 | c.97-2A>G/c.1875delG | F/15 | 12 | 6.7 | 10.6 | 69.9 | 6.4 | 4.4 | 9 | Easy bruising, petechiae, menorrhagia, epistaxis | Iron deficiency, valgus knee |
| II-2 | c.97-2A>G/c.1875delG | M/9 | 83 | 6.8 | 12.6 | 81.0 | 6.4 | 3.2 | 5 | Easy bruising, epistaxis | None |
| I-1 | c.97-2A>G/WT | M/48 | 250 | 7.5 | 14.2 | 89.6 | 5.1 | 3.1 | 0 | None | None |
| I-2 | c.1875delG/WT | F/44 | 201 | 7.8 | 12.0 | 89.7 | 4.5 | 2.8 | 0 | None | None |
| Subject . | PTPRJ genotype . | Gender/age, y . | Platelets, ×109/L . | MPV, fL* . | Hgb, g/dL . | MCV, fL . | WBC, ×109/L . | Neu, ×109/L . | ISTH BAT score† . | Bleeding episodes . | Other findings . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| II-1 | c.97-2A>G/c.1875delG | F/15 | 12 | 6.7 | 10.6 | 69.9 | 6.4 | 4.4 | 9 | Easy bruising, petechiae, menorrhagia, epistaxis | Iron deficiency, valgus knee |
| II-2 | c.97-2A>G/c.1875delG | M/9 | 83 | 6.8 | 12.6 | 81.0 | 6.4 | 3.2 | 5 | Easy bruising, epistaxis | None |
| I-1 | c.97-2A>G/WT | M/48 | 250 | 7.5 | 14.2 | 89.6 | 5.1 | 3.1 | 0 | None | None |
| I-2 | c.1875delG/WT | F/44 | 201 | 7.8 | 12.0 | 89.7 | 4.5 | 2.8 | 0 | None | None |
F, female; Hgb, hemoglobin; M, male; Neu, neutrophils; WBC, white blood cells; WT, wild type.
Evaluated using an automated cell counter, normal range 7-13 fL.
The International Society on Thrombosis and Haemostasis (ISTH) bleeding assessment tool (BAT) score was assessed as previously reported.54,55