Laboratory haematological results
| Maternal grandmother | Maternal great aunt | Mother | Proband | |
|---|---|---|---|---|
| Hb, haemoglobin; MCV, mean cell volume. | ||||
| Age (years) | 53 | 51 | 25 | 2 ½ |
| Hb (g/l) | 60 | 54 | 70 | 90 |
| MCV (fL) | 62 | 52 | 66 | 71 |
| Reticulocyte count | 4% | 6% | 4% | 4% |
| Hb A | 78% | 90% | 86% | 75% |
| Hb A2 | 2.6% | 3.6% | 3.0% | 2.7% |
| Hb F | 20.1% | 7.4% | 11.8% | 23.5% |
| Serum ferritin (ng/ml) | 371 | 505 | 140 | 13 |