@article{Breda_Gambari_Rivella_2009, title={GENE THERAPY IN THALASSEMIA AND HEMOGLOBINOPATHIES}, volume={1}, url={https://www.mjhid.org/mjhid/article/view/2009.008}, abstractNote={<p class="MsoNormal" style="margin: 0cm 0cm 0pt; mso-pagination: none; mso-layout-grid-align: none; tab-stops: 28.0pt 56.0pt 84.0pt 112.0pt 140.0pt 168.0pt 196.0pt 224.0pt 252.0pt 280.0pt 308.0pt 336.0pt;"><span style="font-size: small;"><span style="font-family: " lang="EN-US">Sickle cell disease (SCD) and ß-thalassemia represent the most common hemoglobinopathies caused, respectively, by the alteration of structural features or deficient production of the ß-chain of the Hb molecule. </span><span style="font-family: " lang="EN-US">Other hemoglobinopathies are characterized by different mutations in the ?- or ß-globin genes and are associated with anemia and might require periodic or chronic blood transfusions. Therefore, </span><span style="font-family: " lang="EN-US">ß-thalassemia, SCD and</span><span style="font-family: " lang="EN-US"> other hemoglobinopathies </span><span style="font-family: " lang="EN-US">are excellent candidates for genetic approaches since they are monogenic disorders and, potentially, could be cured by introducing or correcting a single gene into the hematopoietic compartment or a single stem cell. Initial</span><span style="font-family: " lang="EN-US"> </span><span style="font-family: " lang="EN-US">attempts at gene transfer of these hemoglobinopathies have proved unsuccessful due to limitations of</span><span style="font-family: " lang="EN-US"> </span><span style="font-family: " lang="EN-US">available gene transfer vectors. With the advent of lentiviral vectors many of the initial limitations have been overcame. New approaches have also focused on targeting the specific mutation in the ß-globin genes, correcting the DNA sequence or manipulating the fate of RNA translation and splicing to restore ß-globin chain synthesis. These techniques have the potential to correct the defect into hematopoietic stem cells or be utilized to modify stem cells generated from patients affected by these disorders. This</span><span style="font-family: " lang="EN-US"> </span><span style="font-family: " lang="EN-US">review discusses gene therapy strategies for the hemoglobinopathies, including the use of lentiviral vectors, generation of </span><span style="font-family: " lang="EN-US">induced pluripotent <em>stem cells (</em></span><span style="font-family: " lang="EN-US">iPS) </span><span style="font-family: " lang="EN-US">cells, gene targeting, </span><span style="font-family: " lang="EN-US">splice-switching and </span><span style="font-family: " lang="EN-US">stop codon readthrough</span><span style="font-family: " lang="EN-US">.</span></span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; mso-pagination: none; mso-layout-grid-align: none;"><span style="color: black; font-family: " lang="EN-US"><span style="font-size: small;"> </span></span></p>}, number={1}, journal={Mediterranean Journal of Hematology and Infectious Diseases}, author={Breda, Laura and Gambari, Roberto and Rivella, Stefano}, year={2009}, month={Nov.}, pages={e2009008} }