Table 5 Htological data and existence of genetic modifiers identified among 10 β+/βN or β0/βN TI patients
Studied items | Data of patients | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Â | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 |
Age/Age at diagnosis (years) | 26/10 | 17/5 | 7/7 | 5/4 | 26/8 | 7/7 | 5/5 | 12/12 | 6/3 | 38/20 |
Transfusion | No | No | No | No | Occasionally | No | No | No | No | No |
Hepatosplenomegaly1 | No | No | No | No | 0.5/6(cm) | No | mild | No | No | No |
RBC(1012/L) | 4.05 | 5.83 | 5.16 | 5.52 | 3.33 | 5.37 | 5.75 | 5.77 | 5.03 | 4.57 |
Hb (g/L) | 89 | 88 | 91 | 88 | 68 | 94 | 95 | 84 | 82 | 92 |
MCV (fL) | 64 | 49 | 50 | 51 | 68 | 53 | 54 | 60 | 54 | 57 |
MCH (pg) | 21.9 | 15.0 | 17.6 | 15.9 | 20.4 | 17.5 | 16.5 | 19.1 | 16.3 | 20.1 |
MCHC (g/L) | 342 | 307 | 350 | 314 | 298 | 328 | 305 | 319 | 302 | 355 |
HbF (%) | 2.1 | 6.2 | 2.6 | 2.2 | 8.1 | 1.3 | 4.3 | 0 | 1.5 | 2.5 |
HbA2 (%) | 5.5 | 4.3 | 5.2 | 5.8 | 2.6 | 5.6 | 5.1 | 5.8 | 5.5 | 5.2 |
β-globin genotype | -28 (A→G)/N | CD 17 (A→T)/N | CD 17 (A→T)/N | CD 17 (A→T)/N | IVS-2-654 (C→T)/N | IVS-2-654 (C→T)/N | CD41-42 (-CTTT)/N | IVS-2-654 (C→T)/N | CD71-72 (+A)/N | CD71-72 (+A)/N |
Xmn I | -/- | +/- | -/- | -/- | -/- | -/- | -/- | -/- | -/- | -/- |
GATA-1 | Normal | Normal | Normal | Normal | Normal | Normal | ND | ND | ND | ND |
HRI 2 | (T/T) (T/T) | (T/C) (T/T) | (T/C) (T/C) | (T/C) (T/T) | (T/C) (T/T) | (C/C) (C/C) | ND | ND | ND | ND |