Hematologic parameters of the proband and her family
| Parameter . | Proband . | Mother . | Aunt . | Cousin 1 . | Cousin 2 . | Cousin 3 . | Father . |
|---|---|---|---|---|---|---|---|
| (19 y.o.) . | (15 y.o.) . | (14 y.o.) . | |||||
| WBC (× 109/L) | 6.63 | 5.01 | 5.08 | 6.25 | 7.11 | 5.89 | 4.86 |
| RBC (× 1012/L) | 4.93 | 5.04 | 4.13 | 5.33 | 4.83 | 4.46 | 4.91 |
| Hb (g/dL) | 14.3 | 8.7 | 12.3 | 16.9 | 14.9 | 12.7 | 13.3 |
| Hct (%) | 41.5 | 32.3 | 37.8 | 48.9 | 43.6 | 38.4 | 41.3 |
| MCV (fL) | 84.2 | 64.1 | 91.5 | 91.7 | 90.3 | 86.1 | 84.1 |
| MPV (fL) | 12.7 | N.D. | 12.3 | 13.1 | 10.5 | 9.5 | 9.7 |
| PLT (× 109/L) | 91 | 86 | 85 | 96 | 289 | 368 | 225 |
| RP% | 11.1 | 7.9 | 9.7 | 10.3 | 9.8 | 8.7 | 4.9 |
| TPO (pg/mL) | 9.0 | 34.0 | 16.0 | 12.0 | 9.0 | 8.4 | 30.0 |
| Parameter . | Proband . | Mother . | Aunt . | Cousin 1 . | Cousin 2 . | Cousin 3 . | Father . |
|---|---|---|---|---|---|---|---|
| (19 y.o.) . | (15 y.o.) . | (14 y.o.) . | |||||
| WBC (× 109/L) | 6.63 | 5.01 | 5.08 | 6.25 | 7.11 | 5.89 | 4.86 |
| RBC (× 1012/L) | 4.93 | 5.04 | 4.13 | 5.33 | 4.83 | 4.46 | 4.91 |
| Hb (g/dL) | 14.3 | 8.7 | 12.3 | 16.9 | 14.9 | 12.7 | 13.3 |
| Hct (%) | 41.5 | 32.3 | 37.8 | 48.9 | 43.6 | 38.4 | 41.3 |
| MCV (fL) | 84.2 | 64.1 | 91.5 | 91.7 | 90.3 | 86.1 | 84.1 |
| MPV (fL) | 12.7 | N.D. | 12.3 | 13.1 | 10.5 | 9.5 | 9.7 |
| PLT (× 109/L) | 91 | 86 | 85 | 96 | 289 | 368 | 225 |
| RP% | 11.1 | 7.9 | 9.7 | 10.3 | 9.8 | 8.7 | 4.9 |
| TPO (pg/mL) | 9.0 | 34.0 | 16.0 | 12.0 | 9.0 | 8.4 | 30.0 |
Normal ranges of RP% and TPO are 1.4% to 9.1% and <106 pg/mL, respectively.23
Hb, hemoglobin; Hct, hematocrit; MCV, mean corpuscular volume; MPV, mean platelet volume; N.D., not detected; PLT, platelet count; RBC, red blood cell count; RP%, percentage of reticulated platelets; WBC, white blood cell count; y.o., years old.