Abstract

Regulation of human alpha-globin gene expression and alpha-thalassemia

Hemoglobin and globin genes are important models for studying protein and gene structure, function and regulation. We reviewed the main aspects of regulation of human α-globin synthesis, encoded by two adjacent genes (α2 and α1) clustered on chromosome 16. Their expression is controlled mainly by a regulatory element located 40 kb upstream on the same chromosome, the α-major regulatory element, whose activity is restricted to a core fragment of 350 bp, within which several regulatory protein binding sites have been found. Natural deletions involving α-major regulatory element constitute a particular category of α-thalassemia determinants in which the α-globin genes are physically intact but functionally inactive.

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