Clinical and laboratory characteristics of the ET family
| Characteristics . | C1 Son . | C2 Daughter . | C3 Mother . | C4 Father . |
|---|---|---|---|---|
| Age (years) | 6 | 9 | 33 | 34 |
| Sex | Male | Female | Female | Male |
| Palpable splenomegaly | No | No | No | No |
| History of thrombosis | No | No | No | No |
| History of hemorrhage | No | No | No | No |
| WBC count (×103/µL) | 10.2 | 10.2 | 9.2 | 8.1 |
| Hemoglobin (g/dL) | 12.2 | 13.0 | 13.2 | 14.6 |
| Platelet count (×103/µL) | 1027 | 568 | 493 | 275 |
| Ferritin (ng/mL) | 68 | — | — | — |
| Erythrocyte sedimentation rate (mm/h) | 6 | 2 | — | — |
| Cytogenetics | 46, XY | — | — | — |
| Peripheral blood BCR-ABL PCR | Negative | — | — | — |
| JAK2 mutations | ||||
| V617F | Negative | Negative | Negative | Negative |
| R564Q | Positive | Positive | Positive | Negative |
| MPL mutations | ||||
| W515 | Negative | — | — | — |
| S505 | Negative | — | — | — |
| Characteristics . | C1 Son . | C2 Daughter . | C3 Mother . | C4 Father . |
|---|---|---|---|---|
| Age (years) | 6 | 9 | 33 | 34 |
| Sex | Male | Female | Female | Male |
| Palpable splenomegaly | No | No | No | No |
| History of thrombosis | No | No | No | No |
| History of hemorrhage | No | No | No | No |
| WBC count (×103/µL) | 10.2 | 10.2 | 9.2 | 8.1 |
| Hemoglobin (g/dL) | 12.2 | 13.0 | 13.2 | 14.6 |
| Platelet count (×103/µL) | 1027 | 568 | 493 | 275 |
| Ferritin (ng/mL) | 68 | — | — | — |
| Erythrocyte sedimentation rate (mm/h) | 6 | 2 | — | — |
| Cytogenetics | 46, XY | — | — | — |
| Peripheral blood BCR-ABL PCR | Negative | — | — | — |
| JAK2 mutations | ||||
| V617F | Negative | Negative | Negative | Negative |
| R564Q | Positive | Positive | Positive | Negative |
| MPL mutations | ||||
| W515 | Negative | — | — | — |
| S505 | Negative | — | — | — |