Supplementary Figure 1: Pedigrees for HPFH families. | Nature Genetics

Supplementary Figure 1: Pedigrees for HPFH families.

From: Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding

Supplementary Figure 1

A compiled summary of previously published data is presented here describing the various HPFH mutations identified in each family, HbF levels and the genotypes of patients with HPFH mutations, β-thalassaemia (+/– β-thal) or sickle cell trait (+/– HbS). a–e, Pedigrees of families with HPFH mutations in the site at –115 bp in the γ-globin promoter. f–j, Pedigrees of families with HPFH mutations in the site at –200 bp in the γ-globin promoter.

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