Table 1.
Comparison of the hematological indices, Hb A2 and Hb F levels among the compound heterozygous for the novel HBG2:g.-109G>T mutation and the silent HBB:g.-101C>T β-thalassemia mutation (I-3; see also Fig. 1a), and heterozygotes for the silent HBB:g.-101C>T β-thalassemia mutation (note the markedly increased Hb F levels in case I-3)
| Hematological indices | HBB:g.-101C>T | ||
|---|---|---|---|
| HBG2:g.-109G>T (I-3) | Wild-type | Wild-type | |
| Females (n = 18) | Males (n = 13) | ||
| Age (years)/sex | 78/F | Adults | Adults |
| Hb (g/dL) | 12.1 | 12.4 ± 1.22 | 14.5 ± 0.84 |
| Hct (%) | 38.5 | 37.1 ± 2.76 | 43.1 ± 2.30 |
| RBC (×106) | 4,440 | 4,382 ± 446 | 5,144 ± 265 |
| MCH (pg) | 27.3 | 28.4 ± 1.54 | 28.5 ± 0.88 |
| MCV (fl) | 86.7 | 85.5 ± 4.03 | 84.3 ± 2.69 |
| MCHC (%) | 31.4 | 32.7 ± 1.04 | 33.9 ± 0.64 |
| Hb A2 (%) | 4.3 | 3.79 ± 0.24 | 3.92 ± 0.37 |
| Hb F (%) | 14.3 | 2.53 ± 1.8 | 1.60 ± 1.17 |