MINERVA BIOTECNOLOGICA Volume: 15 No. 2 Pages 91-166 Published: JUN 2003
TRENDS IN MOLECULAR DIAGNOSIS AND THERAPY OF BETA-THALASSEMIA AND SICKLE CELL ANEMIA
Preface
The special issue of Minerva Biotecnologica “Trends in Molecular Diagnosis and Therapy of beta-thalassemias and sickle cell anemia” is to present short reviews in the field on molecular diagnosis and therapy of this common class of inherited single-gene diseases. Although in the recent past important advancements have been made in diagnosis and treatment (such as blood transfusions and iron chelation), the development of new therapies is, therefore, urgently needed to limit the impact of these diseases on the affected individuals, their families and the communities where beta-thalassemia and sickle cell anemia are prevalent.
After a short review on new technologies in molecular diagnosis of point mutations and a comprehensive review on the most interesting clinical results of bone marrow transplantation, the articles included in this special issue cover theoretical and technical issues related to two promising approaches in the development of new therapies of beta-thalassemia and sickle cell anemia, such gene therapy and reactivation of fetal hemoglobin.
The object of gene therapy is to correct the genetic defect of beta-thalassemia and sickle cell anemia introducing in erythroid cells of the patient a normal, correctly functional beta-globin gene suitably vehiculated with safe vectors. The overview by Breda and Rivella will present the state-of-the-art in this field. On the other hand, since epidemiological studies have shown that high levels of fetal hemoglobin ameliorate the clinical symptoms of the underlying disease, papers have been included in this issue of Minerva Biotecnologica describing the cellular model systems, the emerging technologies and some recent results in this specific field.
Finally, we have to mention that beta-thalassemia and sickle cell anemia are “rare diseases”. In this respect, the review by Meyers and Lipucci di Paola will present the regulation in Europe and United States on orphan drugs.
Contents:
- Recent advances in molecular diagnosis using surface plasmon resonance and biosensor technology for detection of beta-thalassemia mutations (Giulia Breveglieri, Sara Gardenghi, Roberto Gambari and Giordana Feriotto)
- Bone marrow transplantation for beta-thalassemia (Cladio Giardini, Guido Lucarelli)
- Mouse models for the cure of beta-thalassemia and sickle cell anemia (Laura Breda and Stefano Rivella)
- The human erythroleukemia K562 cell culture system for identification of inducers of fetal hemoglobin (Roberto Gambari)
- The use of cell culture procedures for studying fetal hemoglobin stimulating drugs (Eitan Fibach)
- Quantitative RT-PCR for the analysis of expression of alpha-, beta- and gamma-globin genes in erythroid cells (Nicoletta Bianchi, Monica Borgatti and Roberto Gambari)
- Induction of fetal hemoglobin by DNA-binding drugs (Roberto Gambari, Eitan Fibach)
- Use of the microarray technology to study the effects of DNA-binding drugs on gene expression profile of erythroid-induced human leukemic K562 cells (Carlo Mischiati, Alessia Sereni, Roberto Gambari)
- The Orphan Medicinal Products: an international challenge (Abbey Meyers and Michele Lipucci di Paola)
MINERVA BIOTECNOLOGICA Volume: 17 No. 3 Pages: 153-158 Published: SEP 2005
° Medicinal plants from Lebanon: effects of essential oils from Pistacia palaestina on proliferation and erythroid differentiation of human leukemic K562 cells (Ilaria Lampronti, A. Saab , Roberto Gambari)
MINERVA BIOTECNOLOGICA Volume: 19 No. 4 Pages: 117-122 Published: DEC 2007
° Thalassemia on the WEB: from laboratory research to e-dissemination (Roberto Gambari, Michele Lipucci di Paola, Marina Kleanthous)
MINERVA BIOTECNOLOGICA Volume: 19 No. 4 Pages: 123-132 Published: DEC 2007
° Cellular biosensors for the identification of fetal hemoglobin inducers (Giulia Breveglieri, Francesca Salvatori, Alessia Finotti, et al.)
MINERVA BIOTECNOLOGICA Volume: 20 No. 1 Pages: 51-55 Published: MAR 2008
° Gene silencing in thalassemia (Nicoletta Bianchi, Monica Borgatti, Roberto Gambari)
