Bone marrow and corresponding blood cell counts
| . | Biopsy no. 1 . | Biopsy no. 2 . | Boztug et al117 . | Normal values . | ||
|---|---|---|---|---|---|---|
| Patient 1, male . | Patient 2, female . | Patient 1, male . | Patient 2, female . | |||
| Blood ANC, cells/μL | 190 | 540 | 120 | 550 | ND | ∼ 4000 |
| Age, y | 9 | 5 | 13 | 9 | 0.1 | (1-20) |
| Blasts, % | 1 | 1 | 4 | 4 | 0.9 | 1.2 (0-3) |
| Promyelocytes, % | 10 | 5 | 14 | 18 | 11.4 | 1.8 (0-5) |
| Myelocytes, % | 7 | 3 | 12 | 11 | 2.8 | 16 (9-25) |
| Metamyelocytes, % | 17 | 3 | 18 | 18 | 0.5 | 23 (14-34) |
| Bands + PMNs, % | 36 | 18 | 20 | 17 | 0 | 13 (5-29) |
| Eosinophilic granulocytes, % | 0 | 0 | 0 | 0 | 0.3 | 4 (1-9) |
| Basophilic granulocytes, % | 0 | 0 | 0 | 0 | 0 | 0.1 (0-0.8) |
| Monocytes, % | 8 | 7 | 5 | 4 | 9.4 | ND |
| Lymphocytes, % | 10 | 27 | 9 | 10 | 24 | 16 (5-36) |
| Plasma cells, % | 0 | 1 | 2 | 5 | 0 | ND |
| Erythroid progenitors, % | 11 | 35 | 16 | 13 | 50.6 | 23 (6-38) |
| M:E ratio | 7.2 | 1.1 | 4.6 | 5.5 | 0.5 | 3 (1-12) |
| . | Biopsy no. 1 . | Biopsy no. 2 . | Boztug et al117 . | Normal values . | ||
|---|---|---|---|---|---|---|
| Patient 1, male . | Patient 2, female . | Patient 1, male . | Patient 2, female . | |||
| Blood ANC, cells/μL | 190 | 540 | 120 | 550 | ND | ∼ 4000 |
| Age, y | 9 | 5 | 13 | 9 | 0.1 | (1-20) |
| Blasts, % | 1 | 1 | 4 | 4 | 0.9 | 1.2 (0-3) |
| Promyelocytes, % | 10 | 5 | 14 | 18 | 11.4 | 1.8 (0-5) |
| Myelocytes, % | 7 | 3 | 12 | 11 | 2.8 | 16 (9-25) |
| Metamyelocytes, % | 17 | 3 | 18 | 18 | 0.5 | 23 (14-34) |
| Bands + PMNs, % | 36 | 18 | 20 | 17 | 0 | 13 (5-29) |
| Eosinophilic granulocytes, % | 0 | 0 | 0 | 0 | 0.3 | 4 (1-9) |
| Basophilic granulocytes, % | 0 | 0 | 0 | 0 | 0 | 0.1 (0-0.8) |
| Monocytes, % | 8 | 7 | 5 | 4 | 9.4 | ND |
| Lymphocytes, % | 10 | 27 | 9 | 10 | 24 | 16 (5-36) |
| Plasma cells, % | 0 | 1 | 2 | 5 | 0 | ND |
| Erythroid progenitors, % | 11 | 35 | 16 | 13 | 50.6 | 23 (6-38) |
| M:E ratio | 7.2 | 1.1 | 4.6 | 5.5 | 0.5 | 3 (1-12) |
Data are ANC, age, and cell distribution in 2 different bone marrow samples obtained for each patient; the mean values reported by Boztug et al17 for 4 patients with G6PC3 mutation R253H,17 and normal mean values (range) for children (n = 92).24
PMNs indicates polymorphonuclear leukocytes; ND, not described; and M:E, myeloid:erythroid ratio.