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. 2017 Jun 29;101(1):130–138. doi: 10.1016/j.ajhg.2017.05.012

Table 2.

Univariate Analysis of HBG1-rs368698783 in 581 β-Thalassemia and 386 HbEE Individuals

Characteristics rs368698783 p
βMMCohorta 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

a

The individuals with the similar genetic variants of β00, αα/αα, KLF1 (WT), BCL11A-rs766432 (AA or AC), and HBS1L-MYB- rs9399137 (TT or CT) in βMM thalassemia cohort.

b

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.

c

Hemoglobin levels were untransfused or pre-transfusion data.

d

HbF (g/L) was calculated from total Hb level and HbF (%).

e

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.