Research Article

Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients

Table 2

Frequency of haplotypes of SNPs in HBG2, BCL11A, and HBS1L-MYB compared between patients with β-thalassemia and control cohorts.

BlockCandidate geneHaplotypeCase versus control
Overall frequencyCase; control frequencies value

1HBG2 regionTCC0.5740.618, 0.5285.6520.0174
HBG2 regionGTT0.1190.150, 0.0866.767
HBG2 regionTCT0.1140.103, 0.1260.9070.3409
HBG2 regionGTC0.1080.079, 0.1386.1360.0132
HBG2 regionGCC0.0640.044, 0.0854.8580.0275
HBG2 regionTTC0.0160.003, 0.0297.3060.0069

2BCL11AATGA0.5160.540, 0.4911.6480.1992
BCL11ACCAG0.2930.290, 0.2960.0250.8752
BCL11AACGG0.180.158, 0.2042.4390.1183

3HBS1L-MYBTTTATGT0.7250.692, 0.7603.8980.0484
HBS1L-MYBGTTATGT0.1450.139, 0.1520.2430.6223
HBS1L-MYBGCCGCAC0.0470.065, 0.0285.257
HBS1L-MYBTCCGCAC0.0310.041, 0.0212.250.1336
HBS1L-MYBTTTATGC0.0180.023, 0.0121.130.2877

Significant SNPsHBS1L-MYBTTATGT0.870.830, 0.9129.8370.0017
HBS1L-MYBCCGCAC0.0780.106, 0.0497.739
HBS1L-MYBTTATGC0.0180.023, 0.0121.150.2835
HBS1L-MYBCTGCAC0.0120.020, 0.0034.181

Significant risk haplotypes (). Order of significant SNPs: rs9376090, rs9399137, rs4895441, rs9389269, rs9402686, and rs9494142. Haplotype associated with low HbF levels.