Table 1.
Hematologic parameters and molecular data
| Family 1 | Family 2 | ||||
|---|---|---|---|---|---|
| Patient 1 | Sister of Patient 1 | Mother of Patient 1 | Patient 2 | Brother of Patient 2 | |
| Age (years) | 6 | 1.2 | 38 | 10 | 2 |
| RBC (10^6/uL) | 2.7 | 3.4 | 2.6 | 2.9 | 4.7 |
| Hb (g/dL) | 6.2 | 8.7 | 7.7 | 7.4 | 12.4 |
| MCV (fL) | 74 | 80.7 | 93 | 90.4 | 79.4 |
| RDW (%) | 34.4 | 21.3 | 26.9 | 35.8 | 14.3 |
| Retics (% of RBC) | 22.60 | N.D. | 15.83 | 11.43 | 1.92 |
| HbA2 (%) | 3.2 | 2.2 | 4.05 | 4.3 | 3.4 |
| HbF (%) | 9.5 | 22.5 | 12.9 | 4.0 | 2.1 |
| XmnI polymorphism | +/− | +/− | +/+ | −/− | N.D. |
| β-globin mutation | c.375_376 insCCAGT/βN | c.375_376 insCCAGT/βN | c.375_376 insCCAGT/βN | c.349 delC/βN | βN/ βN |