Case-control univariate analysis of HBB:c.-78A>G mutation in individuals with β+/β41-42 thalassemia
| Characteristics . | KLF1 wt/wt, DNMT1 wt/wt, rs368698783 (GG), rs9399137 (TT or CT), αα/αα, rs4671393 (GG or GA) . | P value∗ . | |
|---|---|---|---|
| β-28/β41,42 (case, n = 69) . | βothers/β41,42 (control, n = 237) . | ||
| Sex, n | |||
| Male:female | 32:37 | 121:116 | .587 |
| Hematological parameters† | |||
| Median Hb (range), g/L | 7.7 (2.2-14) | 7.0 (2.5-11.7) | .069 |
| Median Hb F (range), g/L‡ | 32 (27-35) | 11 (1-35) | <.0001 |
| Median age of onset (range), mo | 148.0 (96-180) | 31.6 (1-360) | .001 |
| Requirement for systematic transfusion, n | |||
| Yes:no | 55:14 | 216:21 | .004 |
| Characteristics . | KLF1 wt/wt, DNMT1 wt/wt, rs368698783 (GG), rs9399137 (TT or CT), αα/αα, rs4671393 (GG or GA) . | P value∗ . | |
|---|---|---|---|
| β-28/β41,42 (case, n = 69) . | βothers/β41,42 (control, n = 237) . | ||
| Sex, n | |||
| Male:female | 32:37 | 121:116 | .587 |
| Hematological parameters† | |||
| Median Hb (range), g/L | 7.7 (2.2-14) | 7.0 (2.5-11.7) | .069 |
| Median Hb F (range), g/L‡ | 32 (27-35) | 11 (1-35) | <.0001 |
| Median age of onset (range), mo | 148.0 (96-180) | 31.6 (1-360) | .001 |
| Requirement for systematic transfusion, n | |||
| Yes:no | 55:14 | 216:21 | .004 |
Hematological parameters were transfused or pretransfusion data.
P value was determined by either a Mann-Whitney U test or χ2 test between the HBB:c.-78A>G mutation.
Similar genetic variants between the case group and control group: the impact of 5 significant genetic modifiers: HBA mutations, KLF1 functional mutations, rs368698783 in HBG1, rs9399137 in HBS1L-MYB, and rs4671393 in BCL11A andDNMT1 mutations. Individuals included in this analysis with similar β0 genetic variants of β41,42, aa/aa, KLF1wt/wt, HBG1-rs368698783 (GG), BCL11A-rs4671393 (GG or GA), and HBS1L-MYB-rs9399137 (TT or CT).
Hb F (g/L) was calculated from Hb (g/dL) and Hb F (%).