Table 4.
Hematological features of the RTEL1-deficient patients
| Normal values | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Characteristic | P1* | P2* | P3 | P4 | P5† | P6† | P7 | P8 | 6 mo-6 y | After 6 y |
| Age at first evaluation | 20 mo | 6 mo | 21 mo | 44 mo | 25 mo | 15 mo | 32 mo | 15 y | ||
| Blood count at first evaluation | ||||||||||
| Total WBC | 3.4 | 7.8 | 8.4 | 2.1 | 2.5 | 1.94 | 4 | 4.1 | 6-17.5 | 04-10 |
| Neutrophils | 2.2 | 2.7 | 5.4 | 0.5 | 1.7 | 0.8 | 2.4 | 3.3 | 1.5-8.5 | 1.5-7 |
| Lymphocytes | 0.8 | 1.2 | 1.7 | 1.1 | 0.7 | 0.84 | 1 | 0.6 | 3-9.5 | 1.5-4 |
| Hemoglobin (g/dL) | 8.7 | 11.7 | 10.5 | 5.8 | 9.5 | 7.5 | 10.4 | 13.2 | 10.5-12 | 12-17 |
| Platelets (G/L) | 178 | 199 | 403 | 8 | 60 | 14 | 324 | 37 | 150-450 | 150-450 |
| Bonne marrow cellularity | — | — | Moderately hypocellular | Hypocellular | Hypocellular | — | — | — | ||
| Age at start of transfusion support | 41 mo | 11 mo | 52 mo | 40 mo | 25 mo | 15 mo | — | — | ||
Bone marrow cellularity on bone marrow smear.
*
Patients 1 and 2 are siblings.
†Patients 5 and 6 are siblings.