Demographic and hematologic profile by ELA2 genotype
. | SCN group . | . | . | CN group . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
. | NN . | NM . | P . | NN . | NM . | P . | ||||
| Peripheral blood | ||||||||||
| No. patients | 35 | 19 | — | 15 | 12 | — | ||||
| Mean no. of analyzed blood samples | 16 | 20 | — | 13 | 21 | — | ||||
| Neutrophils, × 109/L* | 0.38 | 0.13 | .002 | 0.84 | 0.64 | NS | ||||
| Monocytes, × 109/L* | 0.64 | 1.33 | .01 | 0.36 | 0.69 | .007 | ||||
| Bone marrow cytology, normal range* | NA† | NA | — | |||||||
| No. patients. | 19 | 19 | — | |||||||
| Myeloblasts, 0.3-2.4, % | 2.7 | 3.5 | NS | |||||||
| Promyelocytes-myelocytes, 12-25, % | 13.2 | 4.9 | .002 | |||||||
| Metamyelocytes-neutrophils, 33-48, % | 13.3 | 3.1 | .002 | |||||||
. | SCN group . | . | . | CN group . | . | . | ||||
|---|---|---|---|---|---|---|---|---|---|---|
. | NN . | NM . | P . | NN . | NM . | P . | ||||
| Peripheral blood | ||||||||||
| No. patients | 35 | 19 | — | 15 | 12 | — | ||||
| Mean no. of analyzed blood samples | 16 | 20 | — | 13 | 21 | — | ||||
| Neutrophils, × 109/L* | 0.38 | 0.13 | .002 | 0.84 | 0.64 | NS | ||||
| Monocytes, × 109/L* | 0.64 | 1.33 | .01 | 0.36 | 0.69 | .007 | ||||
| Bone marrow cytology, normal range* | NA† | NA | — | |||||||
| No. patients. | 19 | 19 | — | |||||||
| Myeloblasts, 0.3-2.4, % | 2.7 | 3.5 | NS | |||||||
| Promyelocytes-myelocytes, 12-25, % | 13.2 | 4.9 | .002 | |||||||
| Metamyelocytes-neutrophils, 33-48, % | 13.3 | 3.1 | .002 | |||||||
NS indicates not significant; NA, not analyzed; NN genotype, patient with no ELA2 mutation; NM genotype, patient with a heterozygous ELA2 mutation; and —, not applicable.
Measurements are expressed as the median of counts
No analysis of bone marrow data in patients with CN because of variable periods of neutropenia