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Background and Objectives . To explore the role of  cis -regulatory sequences within the   β   globin gene cluster at chromosome 11 on human   γ   globin gene expression related to Hb E allele, we analyze baseline hematological data and Hb F values together with   β   globin haplotypes in homozygous Hb E.  Patients and Methods . 80 individuals with molecularly confirmed homozygous Hb E were analyzed for the   β   globin haplotypes and  Xmn  I polymorphism using PCR-RFLPs. 74 individuals with complete laboratory data were further studied for association analyses.  Results . Eight different   β   globin haplotypes were found linked to Hb E alleles; three major haplotypes were (a) (III), (b) (V), and (c) (IV) accounting for 94% of Hb E chromosomes. A new haplotype (Th-1) was identified and most likely converted from the major ones. The majority of individuals had Hb F < 5%; only 10.8% of homozygous Hb E had high Hb F (average 10.5%, range 5.8–14.3%). No association was found on a specific haplotype or  Xmn  I in these individuals with high Hb F, measured by alkaline denaturation. Conclusion. The cis-regulation of   γ   globin gene expression might not be apparent under a milder condition with lesser globin imbalance such as homozygous Hb E.

Association ofXmnI Polymorphism and Hemoglobin E Haplotypes on Postnatal Gamma Globin Gene Expression in Homozygous Hemoglobin E