Figure 2
Figure 2. Effect of BCL11A and HMIP QTL upon HbF and F cells. (A) Box plots showing the complete distribution of HbF in 619 Chinese β-thalassemia heterozygotes, expressed as percentage in log scale on the y-axis. Each rectangle represents the data between the 25th and 75th quartiles, and the bar in each rectangle is the median value for the HbF in log scale. rs766432: AA, AC, and CC represent the SNP genotypes for rs766432 in BCL11A on chromosome 2p16. rs9399137: TT, CT, and CC represent the SNP genotypes for rs9399137 in HMIP on chromosome 6q23. (B) Effect of the 3 major HbF QTLs on HbF and F-cell levels in adult β-thalassemia heterozygotes who had HbF and F cells determined. Data are mean ± SD. Control indicates 80 subjects (age, 48.3 ± 9.0 years) who are homozygous for the major alleles for rs7482144 in HBG2 promoter, rs766432 in BCL11A, and rs9399137 in HMIP. rs766432: 8 subjects (age 46.9 ± 9.6 years) with identical HbF QTL genotypes as those in control, except that they are homozygous for the minor allele for rs766432 in BCL11A. rs9399137: 6 subjects (age 40.3 ± 13.8 years) with identical HbF QTL genotypes as those in control, except that they are homozygous for the minor allele for rs9399137 in HMIP.

Effect of BCL11A and HMIP QTL upon HbF and F cells. (A) Box plots showing the complete distribution of HbF in 619 Chinese β-thalassemia heterozygotes, expressed as percentage in log scale on the y-axis. Each rectangle represents the data between the 25th and 75th quartiles, and the bar in each rectangle is the median value for the HbF in log scale. rs766432: AA, AC, and CC represent the SNP genotypes for rs766432 in BCL11A on chromosome 2p16. rs9399137: TT, CT, and CC represent the SNP genotypes for rs9399137 in HMIP on chromosome 6q23. (B) Effect of the 3 major HbF QTLs on HbF and F-cell levels in adult β-thalassemia heterozygotes who had HbF and F cells determined. Data are mean ± SD. Control indicates 80 subjects (age, 48.3 ± 9.0 years) who are homozygous for the major alleles for rs7482144 in HBG2 promoter, rs766432 in BCL11A, and rs9399137 in HMIP. rs766432: 8 subjects (age 46.9 ± 9.6 years) with identical HbF QTL genotypes as those in control, except that they are homozygous for the minor allele for rs766432 in BCL11A. rs9399137: 6 subjects (age 40.3 ± 13.8 years) with identical HbF QTL genotypes as those in control, except that they are homozygous for the minor allele for rs9399137 in HMIP.

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