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Minerva Biotecnologica 2008 March;20(1):51-5

language: English

Gene silencing in thalassemia

Bianchi N., Borgatti M., Gambari R

GenTech-for-Thal, Department of Biochemistry and Molecular Biology University of Ferrara, Ferrara, Italy
Laboratory for the Development of Pharmacological and Pharmacogenomic Therapy of Thalassaemia Biotechnology Center
University of Ferrara, Ferrara, Italy


The b-thalassemias are characterized by a very heterogeneous group of inherited mutations causing abnormal expression of globin genes, leading to total absence or quantitative reduction of synthesis of b-globin chains. The reduction of b-globin chains is associated with a corresponding excess of the complementary a-globin chains in erythroid cells, causing premature hemolysis of red blood cells and destruction of erythroid precursors in the bone marrow and extramedullary sites (ineffective erythropoiesis). Several molecules appear to be not necessary or even harmful to the erythroid cell, i.e. abnormal b-globin mRNA molecules (for instance in the case of aberration of splicing) and a-globin mRNA molecules, present in large excess. In agreement, inhibition of the expression of abnormal b- or a-globin mRNAs could be beneficial. Gene silencing could be of interest also in experimental therapy employing activation of the expression of human g-globin genes by interfering with transcriptional repressors. The conclusion of the experiments described in the present review is that experimental therapy of b-thalassemia is commonly dedicated to induce the forced expression (by gene therapy and gene corrections of the mutations) of the adult not functional b-globin gene. On the other hand induction of fetal g-globin genes can be achieved by inhibiting putative transcription repressors. Finally, in addition to this primary issue, the inhibition of the excess of a-globin mRNA might turn to be an approach able to ameliorating the clinical parameters of b-thalassemia.

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