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Over the past 50 years, many advances in our understanding of the general principles controlling gene expression during hematopoiesis have come from studying the synthesis of hemoglobin. Discovering how the alpha- and beta-globin genes are normally regulated and documenting the effects of inherited mutations that cause thalassemia have played a major role in establishing our current understanding of how genes are switched on or off in hematopoietic cells. Previously, nearly all mutations causing thalassemia have been found in or around the globin loci, but rare inherited and acquired trans-acting mutations are being found more often. Such mutations have demonstrated new mechanisms underlying human genetic disease. Furthermore, they are revealing new pathways in the regulation of globin gene expression that, in turn, may open up new avenues for improving the management of patients with common types of thalassemia.

Original publication

DOI

10.1196/annals.1345.012

Type

Journal article

Journal

Ann N Y Acad Sci

Publication Date

2005

Volume

1054

Pages

92 - 102

Keywords

Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 16, DNA Helicases, Epigenesis, Genetic, Gene Expression Regulation, Gene Expression Regulation, Developmental, Globins, Hematologic Neoplasms, Hematopoiesis, Humans, Mutation, Myelodysplastic Syndromes, Nuclear Proteins, Regulatory Sequences, Nucleic Acid, Telomere, Thalassemia, alpha-Thalassemia