HBB-like gene cluster on chromosome 11 in sickle cell aremia. (A) Results of sequencing 14.1 kb of chromosome 11 in the region of the Corfu deletion. BCL11A binding sites are present between coordinates 44000, 45000, 53000, and 54000. A PYR site is near 54000; rs10128556 is located just 5′ to 47000. Thirty-eight SNPs were found; SNPs marked in red and detailed in the table had a significantly different distribution in 15 patients with HbF more than 11% compared with 15 patients with HbF less than 9%; SNPs in blue had a similar distribution between these groups. Binding sites for BCL11A and PYR are shown in the blue ovals and blue diamond, respectively. Below the coordinates are shown the locations of the β-globin pseudogene (HBBP1) and the Corfu deletion. In the table, minor and major alleles are indicated by black and red, respectively. High HbF and Low HbF represent the major allele frequencies in the 2 groups. Transcription factor binding sites were determined using TFSEARCH and a minimal threshold score of 85.0. Changes in transcription factor binding sites occur in the major allele in the high HbF patients. (B) Runs of SNP homozygosity (RoH) on chromosome 11 in Saudi-Indian and Senegal HBB gene cluster haplotype patients. In the remainder of the genome analyzed with the 610 Illumina array, no other substantial runs of SNP homozygosity were present (A.A., personal communication, March 2011).