| Molecular data | Hematological data (Mean ± SD) | Clinical data | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
 | β-globin genotype | α-globin genotype | No. | XmnI 1 | Hb (g/L) | MCV (fL) | MCH (pg) | HbA2 (%) | HbF (%) | Transfusion T:NT:NA2 | Splenectomy S:NS:NH:NA3 | Age at diagnosis4 |
I | β+/β+ | Normal | 9 | 0:0:9:0 | 78.8 ± 10.6 | 65.0 ± 4.4 | 21.2 ± 1.7 | 4.7 ± 1.5 | 58.2 ± 9.8 | 2:5:2 | 2:5:0:2 | 2.8 ± 0.8(7) |
 | β+/β0 | Normal | 32 | 1:4:26:1 | 74.4 ± 10.0 | 70.0 ± 9.8 | 20.9 ± 2.5 | 4.2 ± 1.5 | 53.8 ± 26.9 | 20:10:2 | 9:16:5:2 | 5.1 ± 5.4(30) |
 | β0/β0 | Normal | 3 | 0:2:1:0 | 84.7 ± 12.9 | 68.7 ± 9.1 | 20.6 ± 2.2 | 2.5 ± 0.3 | 84.2 ± 21.9 | 3:0:0 | 0:3:0:0 | 5.7 ± 5.5(3) |
 | Total |  | 44 | 1:6:36:1 | 76.0 ± 10.5 | 68.9 ± 9.0 | 20.9 ± 2.3 | 4.2 ± 1.6 | 56.8 ± 24.9 | 25:15:4 | 11:24:5:4 | 4.8 ± 4.9(40) |
 | β 0 /HbE | Normal | 27 | 0:11:13:3 | 72.2 ± 11.5 | 62.6 ± 7.7 | 18.7 ± 2.4 | 57.0 ± 9.6 5 | 34.1 ± 11.4 | 10:15:2 | 9:9:7:2 | 4.5 ± 3.3(25) |
 | β+/β+ | α Thal6 | 1 | 0:0:1:0 | 73 | 74 | 24.5 | 3.3 | 50.9 | 0:1:0 | 0:0:1:0 | 15 |
 | β+/β+ | Triplication | 1 | 0:0:1:0 | 76 | 76.2 | 27.3 | 3.4 | 65.2 | 1:0:0 | 0:0:1:0 | NA |
 | β+/β0 | α Thal6 | 6 | 0:2:4:0 | 78.8 ± 16.2 | 60.3 ± 6.1 | 19.4 ± 2.4 | 5.25 ± 1.8 | 73.1 ± 6.8 | 3:3:0 | 2:1:3:0 | 3.9 ± 1.4 |
 | β0/β0 | α Thal6 | 7 | 0:5:1:1 | 80.0 ± 11.8 | 67.1 ± 9.4 | 20.7 ± 2.4 | 4.1 ± 1.0 | 87.4 ± 21.7 | 2:5:0 | 1:2:4:0 | 6.3 ± 5.1(6) |
 | Total |  | 15 | 0:7:7:1 | 78.8 ± 12.5 | 65.5 ± 8.8 | 20.9 ± 3.1 | 4.4 ± 1.4 | 77.8 ± 18.4 | 6:9:0 | 3:3:9:0 | 5.9 ± 4.5(13) |
 | β0/HPFH | Normal | 7 | 0:4:2:1 | 78.9 ± 11.2 | 64.1 ± 5.0 | 20.2 ± 1.6 | 3.2 ± 1.5 | 96.8 ± 1.5 | 2:5:0 | 0:5:1:1 | 4.1 ± 1.5(5) |
 | β0/δβ | Normal | 2 | 0:0:2:0 | 77.0 ± 1.4 | 75.4 ± 7.6 | 21.4 ± 0.6 | 0.6 ± 0.1 | 99.4 ± 0.1 | 2:0:0 | 0:2:0:0 | NA |
 | β0orβ+/δβ | α Thal6 | 2 | 0:0:1:1 | 74.0 ± 1.4 | 63.4 ± 4.0 | 19.5 ± 2.0 | 3.2 ± 1.1 | 76.3 ± 0.1 | 0:2:0 | 0:2:0:0 | 2.3 ± 0.4 |
 | Total |  | 11 | 0:4:5:2 | 77.6 ± 8.9 | 66.0 ± 6.6 | 20.3 ± 1.5 | 2.7 ± 1.6 | 93.5 ± 8.7 | 4:7:0 | 0:9:1:1 | 3.6 ± 1.5(7) |
II | β+/βN | Normal | 1 | 0:0:1:0 | 89 | 64 | 21.9 | 5.5 | 2.1 | 0:1:0 | 0:0:1:0 | 10 |
 | β0/βN | Normal | 13 | 0:1:8:4 | 84.2 ± 9.6 | 57.3 ± 7.6 | 18.4 ± 2.1 | 5.0 ± 1.2 | 4.9 ± 3.6 | 1:12:0 | 0:5:8:0 | 7.3 ± 5.3(10) |
 | Total |  | 14 | 0:1:9:4 | 84.5 ± 9.3 | 57.8 ± 7.5 | 18.7 ± 2.2 | 5.0 ± 1.2 | 4.7 ± 3.6 | 1:13:0 | 0:5:9:0 | 7.5 ± 5.1(11) |
 | β0/βN | Triplication | 5 | 0:0:5:0 | 90.2 ± 14.2 | 60.0 ± 5.1 | 17.9 ± 1.2 | 6.0 ± 0.7 | 0.5 ± 1.0 | 0:4:1 | 0:0:5:0 | 12.3 ± 3.5(4) |
 | βdominant/βN | Normal | 1 | 0:1:0:0 | 99 | 65.3 | 18.8 | 5.19 | 10.4 | 0:1:0 | 0:1:0:0 | 16 |