Figure 1.
The prevalence of HBB:c.-78A>G mutations in the Chinese population and phenotype-genotype association between the HBB:c.-78A>G and the clinical severity of patients with β-thalassemia. (A) Two cohorts, including a previously established discovery cohort (1142 patients with β-thalassemia) and a validation cohort (1020 patients with β-thalassemia), were screened for the HBB:c.-78A>G. The frequency and number of the HBB:c.-78A>G mutant allele in each cohort were revealed. The validation cohort includes 14 patients with β0/HPFH, in which HPFH refers to Chinese HPFH and SEA HPFH, 6 β0/βN refers to these genotypes including 4 HBB:c.316-197C>T/βN, 1 HBB:c.52A>T/βN, and 1 HBB:c.126_129delCTTT/βN. (B) The effects of HBB:c.-78A>G genotypes on the levels of Hb F in the peripheral blood in 1142 patients with β-thalassemia. The data were obtained by comparing 204 cases with HBB:c:-78A>G mutation and 938 samples without this mutation as control. Graphs depict the mutated group (green column) and none HBB:c.-78A>G group (red column), presented as the means ± standard error of the mean (SEM). (C) The effects of HBB:c.-78A>G genotypes on the age of onset in the 1142 patients with β-thalassemia, presented as the means ± SEM (∗∗P ≤ .001). (D) The effects of HBB:c.-78A>G genotypes on survival time without transfusion (month) in the discovery cohort. Kaplan-Meier survival curves for the comparison of HBB:c.-78A>G cases with or without the HBB:c.-78A>G mutation. The 2 colored lines represent the 2 groups. We used the log-rank test to compare the median age at first transfusion between the 2 groups (P < .0001). (E) The effects of HBB:c.-78A>G genotypes on the levels of Hb F in the peripheral red blood cells in the validation cohort (1020 patients with β-thalassemia). (F) The effects of HBB:c.-78A>G genotypes on age of onset in 1020 patients with β-thalassemia. (G) The effects of HBB:c.-78A>G genotypes on survival time without transfusion (month) in 1020 patients with β-thalassemia. In the graphs, asterisks indicate levels of statistical significance. ∗∗P < .01; ∗∗∗P < .001; and ∗∗∗∗P < .0001.

The prevalence of HBB:c.-78A>G mutations in the Chinese population and phenotype-genotype association between the HBB:c.-78A>G and the clinical severity of patients with β-thalassemia. (A) Two cohorts, including a previously established discovery cohort (1142 patients with β-thalassemia) and a validation cohort (1020 patients with β-thalassemia), were screened for the HBB:c.-78A>G. The frequency and number of the HBB:c.-78A>G mutant allele in each cohort were revealed. The validation cohort includes 14 patients with β0/HPFH, in which HPFH refers to Chinese HPFH and SEA HPFH, 6 β0/βN refers to these genotypes including 4 HBB:c.316-197C>T/βN, 1 HBB:c.52A>T/βN, and 1 HBB:c.126_129delCTTT/βN. (B) The effects of HBB:c.-78A>G genotypes on the levels of Hb F in the peripheral blood in 1142 patients with β-thalassemia. The data were obtained by comparing 204 cases with HBB:c:-78A>G mutation and 938 samples without this mutation as control. Graphs depict the mutated group (green column) and none HBB:c.-78A>G group (red column), presented as the means ± standard error of the mean (SEM). (C) The effects of HBB:c.-78A>G genotypes on the age of onset in the 1142 patients with β-thalassemia, presented as the means ± SEM (∗∗P ≤ .001). (D) The effects of HBB:c.-78A>G genotypes on survival time without transfusion (month) in the discovery cohort. Kaplan-Meier survival curves for the comparison of HBB:c.-78A>G cases with or without the HBB:c.-78A>G mutation. The 2 colored lines represent the 2 groups. We used the log-rank test to compare the median age at first transfusion between the 2 groups (P < .0001). (E) The effects of HBB:c.-78A>G genotypes on the levels of Hb F in the peripheral red blood cells in the validation cohort (1020 patients with β-thalassemia). (F) The effects of HBB:c.-78A>G genotypes on age of onset in 1020 patients with β-thalassemia. (G) The effects of HBB:c.-78A>G genotypes on survival time without transfusion (month) in 1020 patients with β-thalassemia. In the graphs, asterisks indicate levels of statistical significance. ∗∗P < .01; ∗∗∗P < .001; and ∗∗∗∗P < .0001.

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