Bone marrow differential of patients with SDS
| Patient (mutation)* . | Age, y . | Proerythroblasts, % . | Normoblasts (basophilic, polychromatic, orthochromatic), % . | Promyelocytes, myelocytes, metamyelocytes, %) . | Bands, neutrophils, % . | Lymphocytes, % . | Myeloblasts, % . | Cellularity,† % . | Peripheral blood Hg, g/L; reticulocytes, × 109/L; neutrophils, × 109/L . |
|---|---|---|---|---|---|---|---|---|---|
| 1 (A/A + B) | 21.5 | 5 | 28 | 29 | 6 | 6 | 2.5 | 33-66 | 72;28;1.1 |
| 2 (A/A + B) | 13.5 | 7 | 31.5 | 37.5 | 6 | 15.5 | 2.5 | 33-66 | 90;ND;1.05 |
| 3 (A/B) | 20 | 2 | 21.5 | 44.5 | 7.5 | 23 | 2.5 | Indeterminate | 91;ND;2.4 |
| 4 (A/C) | 20 | 2 | 24 | 40 | 5 | 28 | 1 | 33-66 | 123;ND;1.2 |
| 5 (A/D) | 22.5 | 7.5 | 30 | 31.5 | 10 | 17.5 | 2.5 | < 33 | 114;44;0.56 |
| 6 (A/A + B) | 4 | 5 | 21 | 33.5 | 18.5 | 18 | 2.5 | > 66 | 113;1;0.47 |
| 7 (A/B) | 13.5 | 1 | 23 | 40 | 21 | 14 | 2 | Indeterminate | 164;4;3.0 |
| 8 (A/B) | 31.5 | 2 | 39 | 31 | 15.5 | 15 | 2 | 33-66 | 120;ND;0.9 |
| Normal54 | > 12 | 0.2-1.3 | 18.8-36.2 | 19.6-34.2 | 13.5-27.3 | 11.1-23.2 | 0.2-1.5 |
| Patient (mutation)* . | Age, y . | Proerythroblasts, % . | Normoblasts (basophilic, polychromatic, orthochromatic), % . | Promyelocytes, myelocytes, metamyelocytes, %) . | Bands, neutrophils, % . | Lymphocytes, % . | Myeloblasts, % . | Cellularity,† % . | Peripheral blood Hg, g/L; reticulocytes, × 109/L; neutrophils, × 109/L . |
|---|---|---|---|---|---|---|---|---|---|
| 1 (A/A + B) | 21.5 | 5 | 28 | 29 | 6 | 6 | 2.5 | 33-66 | 72;28;1.1 |
| 2 (A/A + B) | 13.5 | 7 | 31.5 | 37.5 | 6 | 15.5 | 2.5 | 33-66 | 90;ND;1.05 |
| 3 (A/B) | 20 | 2 | 21.5 | 44.5 | 7.5 | 23 | 2.5 | Indeterminate | 91;ND;2.4 |
| 4 (A/C) | 20 | 2 | 24 | 40 | 5 | 28 | 1 | 33-66 | 123;ND;1.2 |
| 5 (A/D) | 22.5 | 7.5 | 30 | 31.5 | 10 | 17.5 | 2.5 | < 33 | 114;44;0.56 |
| 6 (A/A + B) | 4 | 5 | 21 | 33.5 | 18.5 | 18 | 2.5 | > 66 | 113;1;0.47 |
| 7 (A/B) | 13.5 | 1 | 23 | 40 | 21 | 14 | 2 | Indeterminate | 164;4;3.0 |
| 8 (A/B) | 31.5 | 2 | 39 | 31 | 15.5 | 15 | 2 | 33-66 | 120;ND;0.9 |
| Normal54 | > 12 | 0.2-1.3 | 18.8-36.2 | 19.6-34.2 | 13.5-27.3 | 11.1-23.2 | 0.2-1.5 |
A indicates 258 + 2T > C; B, 183-184TA > CT; C, 260T > G; and D, 203A > G.
The cellularity was determined as the percentage of areas with hematopoietic cells on bone marrow biopsies. In cases where no biopsy was available, the percentage of areas of hematopoietic cells on aspirate fragments was determined. In case of no fragments seen on the aspirates, the cellularity was deemed “indeterminate.”