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Figure 3 | BMC Medical Genetics

Figure 3

From: Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer

Figure 3

HMIP-2haplotypes detected in Tanzanian SCD patients. Nine critical variants at HMIP-2 were used to investigate haplotypes present at the locus (alignment by Phase v. 2.1). Haplotypes were assigned to the principal clades described previously [18], dependent on whether they contain HbF-increasing alleles (shaded in gray) at HMIP-2A (capital ‘A’) or HMIP-2B (capital ‘B’). a-b: ancestral haplotype present in all human populations, composed entirely of low-HbF associated alleles; A-b: HbF increasing alleles at HMIP-2A, but lacking the European/Asian-specific allele rs9376090-C; a-B: a-B1: one HbF-increasing allele at HMIP-2B, rs4895441-G, a-B2: HbF-increasing alleles across HMIP-2B; a-B3: two HbF-increasing alleles at HMIP-2B, rs9494145-C and rs9483788-C, A-B: Eurasian haplotype, HbF-increasing alleles across all of HMIP-2; Rare haplotypes (frequency < 0.5%) are not shown. *imputed

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BMC Medical Genetics

ISSN: 1471-2350

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