Anemia Research Today is a free monthly online journal that collates and summarizes the latest research about Anemia, including details on symptoms, diagnosis, diet, treatment, causes.

Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1.

Papachatzopoulou A, Kaimakis P, Pourfarzad F, Menounos PG, Evangelakou P, Kollia P, Grosveld FG, Patrinos GP

Department of General Biology, School of Medicine, University of Patras, Patras, Greece.

We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising the human beta-globin locus chromatin hub (CH), namely HS-111 and 3'HS1. The HS-111 (-21 G>A) and 3'HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies in beta-thalassemia intermedia and major patients and normal (nonthalassemic) individuals. We also show that the 3'HS1 (+179 C>T) variation results in a GATA-1 binding site and correlates with increased fetal hemoglobin production in beta-thalassemia intermedia patients. In contrast, the HS-111 (+126 G>A) transition, found in three normal chromosomes, is simply a rare polymorphism. We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in gamma-globin genes expression.

Published 8 October 2007 in Am J Hematol, 82(11): 1005-9.
Full-text of this article is available online (may require subscription).

© 2004-2008 Anemia Research Today. All Rights Reserved.