Table 2.
Phenotype of the 4 patients with DBA
| Characteristic | UPN#1447 | UPN#1821 | UPN#1822 | UPN#1213 |
|---|---|---|---|---|
| Age, mo* | 27.6 | 2 | 1 | 1.8 |
| Hb, g/L* | 79 | 20 | NA | NA |
| MCV, fL* | 91.4 | 114.8 | NA | NA |
| Reticulocyte count, × 109/L* | 7.5 | 60 | NA | NA |
| eADA, nmol/min/mg Hb* | 5.95 | 5 | 4 | 4.38 |
| HbF, %* | 9 | 18 | NA | NA |
| Bone marrow | 1% total Eb | 1% total Eb | 31 | 4 |
| Congenital abnormalities | None | Valgus foot | Posterior hypospadias | Hypospadias |
| Hb at the last follow-up, g/L | 110 | 90 | NA | 108 |
| Treatment at the last follow-up | Treatment independence (deceased) | Transfusion | Treatment independence | Steroid |
*
At presentation.
NA, not available.