Table 1
Haematological data of the proband and her family
| Family members | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| I 1 | I 2 | II 1 | II 2 | II 3 | II 4 | II 5 | III 1 | III 2 | |
| The generation of the family members is denoted by the Roman numeral. The family member II 6 was not detected because of absence during testing. | |||||||||
| Hb, haemoglobin; MCH, mean cell haemoglobin; MCV, mean cell volume; RBC, red blood cells; Y, years. | |||||||||
| Sex/age (Y) | F/49 | M/54 | M/33 | F/27 | F/25 | M/22 | F/35 | F/1 | M/5 |
| Hb (g/l) | 118 | 150 | 173 | 126 | 135 | 135 | 118 | 112 | 141 |
| RBC (×1012) | 5.63 | 4.96 | 5.70 | 6.23 | 4.51 | 4.57 | 5.87 | 6.09 | 5.02 |
| MCV (fL) | 64.5 | 85.7 | 88.1 | 62.1 | 87.8 | 82.3 | 63.0 | 56.2 | 78.5 |
| MCH (pg) | 21.0 | 30.2 | 30.4 | 20.2 | 29.9 | 29.5 | 20.1 | 18.4 | 28.1 |
| HbA (%) | 97.8 | 97.5 | 93.11 | 97.02 | 96.63 | 95.65 | 96.98 | 90.03 | 97.35 |
| HbA2 (%) | 2.20 | 2.50 | 3.27 | 2.98 | 3.37 | 3.28 | 3.12 | 2.18 | 2.65 |
| HbF (%) | 0 | 0 | 3.62 | 0 | 0 | 0 | 0 | 7.79 | 0 |
| Genotype | – –11.1/αα | αα/αα | αα/αα | – –11.1/αα | αα/αα | αα/αα | – –11.1/αα | – –11.1/αα | αα/αα |
