Table 1.
Differential diagnosis between DBA and transient TEC
| Characteristic | DBA | TEC |
|---|---|---|
| Median age at diagnosis | 2 months | >1 year |
| Inheritance | Sporadic (55%) or dominant (45%) | Not inherited |
| Congenital anomalies | In 50% | None |
| Pure red blood cell aplasia (bone marrow biopsy) or erythroblastopenia (bone marrow aspiration) | Yes | Yes |
| Hb level | Low | Low |
| Reticulocyte count | <20 × 109/L | <20 × 109/L |
| MCV | Usually high | Normal |
| eADA activity | Normal to high | Normal |
| HbF | Normal to high | Normal |
| Allelic variation in a RP gene or another gene involved in DBA-like cases | 70% to 80% of the patients with DBA | No mutation found |