Table 2.
Univariate Analysis of HBG1-rs368698783 in 581 β-Thalassemia and 386 HbEE Individuals
| Characteristics | rs368698783 | p | ||
|---|---|---|---|---|
| βM/βMCohorta | GG (n = 500) | GA (n = 77) | AA (n = 4) | |
| Gender (Male: Female) | 326:174 | 48:29 | 2:2 | 0.733 |
| Age of onset (months), median (5th-95th percentile) | 6 (2.0-19.9) | 12 (2.0-36.0) | 30 (24.0-42.0) | 3.82 × 10−10 |
| Hb (g/L)c | 73.35 ± 22.82 | 73.74 ± 21.62 | 69.50 ± 21.42e | 0.891 |
| HbF (g/L)d | 9.14 ± 11.11 | 17.65 ± 16.57 | 37.52 ± 24.03 | 7.79 × 10−10 |
| Requirement for systematic transfusion (No.) | 479 (95.8%) | 62 (80.5%) | 2 (50.0%) | 1.44 × 10−9 |
| Category of anemia (No.) TI: TM | 60:440 | 38:39 | 3:1 | 9.17 × 10−18 |
| HbEE Cohortb | GG (n = 24) | GA (n = 128) | AA (n = 234) | |
| Gender (Male: Female) | 8:16 | 49:79 | 114:120 | 0.086 |
| Hb (g/L) | 118.83 ± 16.30 | 113.87 ± 13.80 | 115.82 ± 13.98 | 0.075 |
| HbE (g/L) | 107.35 ± 16.86 | 103.44 ± 16.24 | 104.01 ± 16.05 | 0.499 |
| HbF (g/L) | 4.12 ± 4.45 | 5.14 ± 4.99 | 8.41 ± 6.24 | 1.34 × 10−7 |
Univariate analysis was conducted according to our previous operation.6
The individuals with the similar genetic variants of β0/β0, αα/αα, KLF1 (WT), BCL11A-rs766432 (AA or AC), and HBS1L-MYB- rs9399137 (TT or CT) in βM/βM thalassemia cohort.
The individuals with the similar genetic variants of αα/αα, KLF1 (WT), BCL11A-rs4671393 (GG or GA), HBS1L-MYB-rs4895441 (AA or AG), and HBS1L-MYB-rs9399137 (TT or TC) in HbEE cohort.
Hemoglobin levels were untransfused or pre-transfusion data.
HbF (g/L) was calculated from total Hb level and HbF (%).
Lower hemoglobin levels in the individuals with the genotype of AA were most likely to be correlated with low frequency of transfusion. The odds ratio (95% CI) of requirement for systematic transfusion was 0.181 (0.089-0.370, p = 1.16 × 10−5) between the GA group and the GG group, 0.044 (0.006-0.327, p = 0.011) between the AA group and the GG group. The odds ratio (95% CI) of TI diagnosis was 0.140 (0.083-0.236, p = 4.47 × 10−16) between the GA group and the GG group, 0.045 (0.005-0.444, p = 0.007) between the AA and the GG group.