Clinical and laboratory characteristics of patients in the 3 families
| . | F1 . | F2 . | F3 . |
|---|---|---|---|
| Number of patients | 3 F, 2 M (P1-P5); | 2 F, 1 M (P6-P8); | 1 M (P9); |
| Age, y | 24-42 | 6-14 | 11 |
| Bleeding symptoms | Easy bruising, epistaxis, menorrhagia, hemorrhagic corpus luteum | Easy bruising, menorrhagia | Easy bruising, epistaxis |
| Platelet count (N 150-450 × 109/L) | 1-4 × 109/L | 3-10 × 109/L | 30-40 × 109/L |
| MPV | NA | NA | 18.9-19.4 fL |
| Hemoglobin (N 12-16 g/dL) | 10.7-14.4 g/dL | 9.37 g/dL* | Normal |
| Blood smear | Macrothrombocytopenia; no pale platelets | Macrothrombocytopenia; no pale platelets | Macrothrombocytopenia; no pale platelets |
| Bone marrow | Not done | Mild increase in megakaryocytes with hypolobulated forms and focal mild increase reticulin fibers* | Not done |
| RBC transfusions | Yes | Yes | No |
| Platelet transfusions | Yes | Yes | Yes |
| Myopathy | No | No | Yes |
| . | F1 . | F2 . | F3 . |
|---|---|---|---|
| Number of patients | 3 F, 2 M (P1-P5); | 2 F, 1 M (P6-P8); | 1 M (P9); |
| Age, y | 24-42 | 6-14 | 11 |
| Bleeding symptoms | Easy bruising, epistaxis, menorrhagia, hemorrhagic corpus luteum | Easy bruising, menorrhagia | Easy bruising, epistaxis |
| Platelet count (N 150-450 × 109/L) | 1-4 × 109/L | 3-10 × 109/L | 30-40 × 109/L |
| MPV | NA | NA | 18.9-19.4 fL |
| Hemoglobin (N 12-16 g/dL) | 10.7-14.4 g/dL | 9.37 g/dL* | Normal |
| Blood smear | Macrothrombocytopenia; no pale platelets | Macrothrombocytopenia; no pale platelets | Macrothrombocytopenia; no pale platelets |
| Bone marrow | Not done | Mild increase in megakaryocytes with hypolobulated forms and focal mild increase reticulin fibers* | Not done |
| RBC transfusions | Yes | Yes | No |
| Platelet transfusions | Yes | Yes | Yes |
| Myopathy | No | No | Yes |
P1 though P9 refers to patient designation in Figure 1.
F, female; M, male; NA, not available; RBC, red blood cell.
Available only for P7. Iron deficiency anemia was noted only in female patients secondary to menorrhagia.