Prevalence in the homozygous β haplotypes of the different alleles in the 3 loci known to impact HbF expression
| Patients (n = 222) . | CAR/CAR (n = 88), % . | BEN/BEN (n = 65), % . | SEN/SEN (n = 14), % . | |||
|---|---|---|---|---|---|---|
| Loci . | Allele . | |||||
| HBG2 | rs7482144 | chr11:5276169 | C/C | 100 | 100 | 0 |
| C/T | 0 | 0 | 0 | |||
| T/T | 0 | 0 | 100 | |||
| BCL11A | rs10189857 | chr2:60713235 | A/A | 44.3 | 53.8 | 57.1 |
| A/G | 45.5 | 40.0 | 35.8 | |||
| G/G | 10.2 | 6.2 | 7.1 | |||
| rs1427407 | chr2:60718043 | G/G | 65.9 | 40 | 42.9 | |
| G/T | 23.9 | 38.5 | 35.7 | |||
| T/T | 10.2 | 21.5 | 21.4 | |||
| HBS1L-MYB | rs9399137 | chr6:135419018 | T/T | 92 | 87.7 | 78.6 |
| C/T | 6.9 | 12.3 | 21.4 | |||
| C/C | 1.1 | 0 | 0 | |||
| Patients (n = 222) . | CAR/CAR (n = 88), % . | BEN/BEN (n = 65), % . | SEN/SEN (n = 14), % . | |||
|---|---|---|---|---|---|---|
| Loci . | Allele . | |||||
| HBG2 | rs7482144 | chr11:5276169 | C/C | 100 | 100 | 0 |
| C/T | 0 | 0 | 0 | |||
| T/T | 0 | 0 | 100 | |||
| BCL11A | rs10189857 | chr2:60713235 | A/A | 44.3 | 53.8 | 57.1 |
| A/G | 45.5 | 40.0 | 35.8 | |||
| G/G | 10.2 | 6.2 | 7.1 | |||
| rs1427407 | chr2:60718043 | G/G | 65.9 | 40 | 42.9 | |
| G/T | 23.9 | 38.5 | 35.7 | |||
| T/T | 10.2 | 21.5 | 21.4 | |||
| HBS1L-MYB | rs9399137 | chr6:135419018 | T/T | 92 | 87.7 | 78.6 |
| C/T | 6.9 | 12.3 | 21.4 | |||
| C/C | 1.1 | 0 | 0 | |||
For each locus, the favorable allele for HbF expression is in bold.