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 | — | — | — |