Patients' characteristics
| Patient identification . | Sex . | Age (y) . | BMT (age) (y) . | Patient group* . | Consanguineous parents . | WBC (nL−1) . | Hgb (g∗dL−1) . | Plt (nL−1) . | Tests performed† . |
|---|---|---|---|---|---|---|---|---|---|
| CAMT-1 | F | 0.6 | I | + | 7 | ||||
| 0.3 | 7.8 | 5.6 | 20 | 2, 6 | |||||
| CAMT-6 | F | 0.8 | I | − | 7 | ||||
| 0.7 | 10.3 | 11.5 | 6 | 1, 4 | |||||
| 0.8 | 8.6 | 6.6 | PT‡ | 6 | |||||
| CAMT-7 (died after BMT) | M | 7.0 | II | − | 7 | ||||
| 1.4 | 6.8 | 11.1 | 26 | 6 | |||||
| 3.4 | 5.1 | 10.7 | 10 | 1, 2, 3, 4 | |||||
| 4.2 | 4.8 | 11.9 | 5 | 3, 4 | |||||
| 5.6 | 3.9 | 11.0 | 5 | 6 | |||||
| 6.5 | 3.6 | 9.0 | 1 | 1, 3, 4 | |||||
| CAMT-8 | M | 2.8 | II | − | |||||
| 2.2 | 12.4 | 11.1 | 14 | 1, 2, 4 | |||||
| CAMT-9 | F | 4.2 | I | + | 7 | ||||
| 2.3 | 12.4 | 11.1 | 7 | 2, 4 | |||||
| 3.0 | 8.1 | 10.1 | 8 | 1, 4, 6 | |||||
| CAMT-11 | F | — | II | − | 7 | ||||
| 7.8 | 6.5 | 13.0 | 29 | 1, 2, 4, 5 | |||||
| 9.3 | 4.6 | 12.6 | 25 | 3, 4, 5 | |||||
| CAMT-12 | M | 4.1 | II | − | 7 | ||||
| 3.7 | 8.3 | 11.7 | 7 | 1, 3, 4 | |||||
| CAMT-13 | F | 3.8 | I | + | 7 | ||||
| 1.5 | 7.0 | 9.1 | 35 | 1, 2, 4 | |||||
| CAMT-17 | F | 1.9 | I | + | 7 | ||||
| 0.8 | 8.6 | 9.8 | 13 | 6 | |||||
| 1.8 | na | na | na | 1, 2 |
| Patient identification . | Sex . | Age (y) . | BMT (age) (y) . | Patient group* . | Consanguineous parents . | WBC (nL−1) . | Hgb (g∗dL−1) . | Plt (nL−1) . | Tests performed† . |
|---|---|---|---|---|---|---|---|---|---|
| CAMT-1 | F | 0.6 | I | + | 7 | ||||
| 0.3 | 7.8 | 5.6 | 20 | 2, 6 | |||||
| CAMT-6 | F | 0.8 | I | − | 7 | ||||
| 0.7 | 10.3 | 11.5 | 6 | 1, 4 | |||||
| 0.8 | 8.6 | 6.6 | PT‡ | 6 | |||||
| CAMT-7 (died after BMT) | M | 7.0 | II | − | 7 | ||||
| 1.4 | 6.8 | 11.1 | 26 | 6 | |||||
| 3.4 | 5.1 | 10.7 | 10 | 1, 2, 3, 4 | |||||
| 4.2 | 4.8 | 11.9 | 5 | 3, 4 | |||||
| 5.6 | 3.9 | 11.0 | 5 | 6 | |||||
| 6.5 | 3.6 | 9.0 | 1 | 1, 3, 4 | |||||
| CAMT-8 | M | 2.8 | II | − | |||||
| 2.2 | 12.4 | 11.1 | 14 | 1, 2, 4 | |||||
| CAMT-9 | F | 4.2 | I | + | 7 | ||||
| 2.3 | 12.4 | 11.1 | 7 | 2, 4 | |||||
| 3.0 | 8.1 | 10.1 | 8 | 1, 4, 6 | |||||
| CAMT-11 | F | — | II | − | 7 | ||||
| 7.8 | 6.5 | 13.0 | 29 | 1, 2, 4, 5 | |||||
| 9.3 | 4.6 | 12.6 | 25 | 3, 4, 5 | |||||
| CAMT-12 | M | 4.1 | II | − | 7 | ||||
| 3.7 | 8.3 | 11.7 | 7 | 1, 3, 4 | |||||
| CAMT-13 | F | 3.8 | I | + | 7 | ||||
| 1.5 | 7.0 | 9.1 | 35 | 1, 2, 4 | |||||
| CAMT-17 | F | 1.9 | I | + | 7 | ||||
| 0.8 | 8.6 | 9.8 | 13 | 6 | |||||
| 1.8 | na | na | na | 1, 2 |
BMT = bone marrow transplantation; WBC = white blood cells; Plt = platelets.
See “Patient, materials, and methods.”
Tests performed: 1. Thrombopoietin (TPO) enzyme-linked immunosorbent assay (ELISA); 2. TPO bioassay; 3. c-Mpl expression (flow cytometry); 4. TPO reactivity (flow cytometry); 5. tyrosine phosphorylation in platelets; 6. colony assay from bone marrow mononuclear cells (BM-MNCs); 7. sequencing of c-mpl gene.
Platelet transfusion.
na: data not available.