Lulli V.,Oncology and Molecular Medicine |
Romania P.,Oncology and Molecular Medicine |
Morsilli O.,Oncology and Molecular Medicine |
Cianciulli P.,Thalassemia Unit |
And 4 more authors.
PLoS ONE | Year: 2013
MicroRNAs (miRNAs) play key roles in modulating a variety of cellular processes through repression of mRNAs target. The functional relevance of microRNAs has been proven in normal and malignant hematopoiesis. While analyzing miRNAs expression profile in unilineage serum-free liquid suspension unilineage cultures of peripheral blood CD34+ hematopoietic progenitor cells (HPCs) through the erythroid, megakaryocytic, granulocytic and monocytic pathways, we identified miR-486-3p as mainly expressed within the erythroid lineage. We showed that miR-486-3p regulates BCL11A expression by binding to the extra-long isoform of BCL11A 3′UTR. Overexpression of miR-486-3p in erythroid cells resulted in reduced BCL11A protein levels, associated to increased expression of γ-globin gene, whereas inhibition of physiological miR-486-3p levels increased BCL11A and, consequently, reduced γ-globin expression. Thus, miR-486-3p regulating BCL11A expression might contributes to fetal hemoglobin (HbF) modulation and arise the question as to what extent this miRNA might contribute to different HbF levels observed among β-thalassemia patients. Erythroid cells, differentiated from PB CD34+ cells of a small cohort of patients affected by major or intermedia β-thalassemia, showed miR-486-3p levels significantly higher than those observed in normal counterpart. Importantly, in these patients, miR-486-3p expression correlates with increased HbF synthesis. Thus, our data indicate that miR-486-3p might contribute to different HbF levels observed among thalassemic patients and, possibly, to the clinical severity of the disease. © 2013 Lulli et al.
Tziomalos K.,Aristotle University of Thessaloniki |
Perifanis V.,Thalassemia Unit
World Journal of Gastroenterology | Year: 2010
Accurate evaluation of iron overload is necessary to establish the diagnosis of hemochromatosis and guide chelation treatment in transfusion-dependent anemia. The liver is the primary site for iron storage in patients with hemochromatosis or transfusion-dependent anemia, therefore, liver iron concentration (LIC) accurately reflects total body iron stores. In the past 20 years, magnetic resonance imaging (MRI) has emerged as a promising method for measuring LIC in a variety of diseases. We review the potential role of MRI in LIC determination in the most important disorders that are characterized by iron overload, that is, thalassemia major, other hemoglobinopathies, acquired anemia, and hemochromatosis. Most studies have been performed in thalassemia major and MRI is currently a widely accepted method for guiding chelation treatment in these patients. However, the lack of correlation between liver and cardiac iron stores suggests that both organs should be evaluated with MRI, since cardiac disease is the leading cause of death in this population. It is also unclear which MRI method is the most accurate since there are no large studies that have directly compared the different available techniques. The role of MRI in the era of genetic diagnosis of hemochromatosis is also debated, whereas data on the accuracy of the method in other hematological and liver diseases are rather limited. However, MRI is a fast, non-invasive and relatively accurate diagnostic tool for assessing LIC, and its use is expected to increase as the role of iron in the pathogenesis of liver disease becomes clearer. © 2010 Baishideng.
Alexakis N.,National and Kapodistrian University of Athens |
Dardamanis D.,National and Kapodistrian University of Athens |
Albanopoulos K.,National and Kapodistrian University of Athens |
Ptohis N.,Gennimatas Hospital |
And 4 more authors.
Journal of Laparoendoscopic and Advanced Surgical Techniques | Year: 2013
Background: Portal vein system thrombosis (PVT) is an infrequent but potentially serious complication after laparoscopic splenectomy. Patients with β-thalassemia are at higher risk as they have splenomegaly and hypercoagulability. Subjects and Methods: Forty-eight β-thalassemia patients who underwent hand-assisted laparoscopic splenectomy or laparoscopic splenectomy were studied prospectively with pre- and postoperative Doppler ultrasonography or computed tomography scanning. Results: The incidence of PVT was 8.3% (95% confidence interval [CI] 0.2%-16.4%) (4 of 48 patients). Spleen weight was the only independent factor associated with the presence of PVT. The odds ratio for spleen weight (100 g increase) was 1.46 (95% CI 1.10-1.94, P=.010). Receiver operator characteristic curve analysis showed that the optimal cutoff of spleen weight to the prediction of PVT was 1543 g. Thrombosis resolution was observed after a median of 165 days. Conclusions: Patients with β-thalassemia who undergo laparoscopic-assisted splenectomy are at high risk of postoperative PVT. Close postoperative surveillance and aggressive coagulation prophylaxis are needed in these patients. Larger studies are required to confirm the present findings. © Mary Ann Liebert, Inc.
Lyrakos G.N.,National and Kapodistrian University of Athens |
Lyrakos G.N.,Thalassemia Unit |
Vini D.,Thalassemia Unit |
Aslani H.,Thalassemia Unit |
Drosou-Servou M.,Thalassemia Unit
Patient Preference and Adherence | Year: 2012
Background: No specific questionnaire has been developed to assess the health-related quality of life of thalassemia patients. Thus, the main objective of this study was to develop, according to psychometric standards, a self-administered Specific Thalassemia Quality of Life Instrument (STQOLI) for adult patients. Methods: First, a qualitative phase was conducted to generate items and identify domains using the critical analysis incident technique and a literature review. A list of easily comprehensible, non-redundant items was defined using the Delphi technique and a pilot study on ten thalassemia patients. This phase involved both patients and experts. The second step was a quantitative validation phase comprising a study of 128 thalassemia patients in a single hospital. It was designed to select items, identify dimensions, and measure reliability and internal and concurrent validity. The psychometric and scaling properties of the proposed 41-item Specific Thalassemia Quality of Life Instrument were then assessed among patients recruited from the Thalassemia Unit at the General Hospital of Nikaia, Greece. Results: The final questionnaire had 41 items comprising four main domains and one global item about general health. The factorial structure was satisfactory (loading > 0.40 on each factor of the four domains for all items). Interscale correlations ranged from 0.06 to 0.78, Cronbach's α-coefficients were 0.78 for the psychosocial domain, 0.77 for the chelation domain, 0.72 for the transfusion domain, 0.81 for the disease and symptoms domain, and 0.840 for the total score of the questionnaire. Conclusion: The 41-item Specific Thalassemia Quality of Life Instrument seems to be a valid tool for assessing health-related quality of life for patients with thalassemia. More research is needed to explore the universal properties of the questionnaire. © 2012 Lyrakos et al, publisher and licensee Dove Medical Press Ltd.
Risoluti R.,University of Rome La Sapienza |
Materazzi S.,University of Rome La Sapienza |
Sorrentino F.,Thalassemia Unit |
Maffei L.,Thalassemia Unit |
Caprari P.,Oncology and Molecular Medicine
Talanta | Year: 2016
β-Thalassemia is a hemoglobin genetic disorder characterized by the absence or reduced β-globin chain synthesis, one of the constituents of the adult hemoglobin tetramer. In this study the possibility of using thermogravimetric analysis (TGA) followed by chemometrics as a new approach for β-thalassemia detection is proposed. Blood samples from patients with β-thalassemia were analyzed by the TG7 thermobalance and the resulting curves were compared to those typical of healthy individuals. Principal Component Analysis (PCA) was used to evaluate the correlation between the hematological parameters and the thermogravimetric results. The thermogravimetric profiles of blood samples from β-thalassemia patients were clearly distinct from those of healthy individuals as result of the different quantities of water content and corpuscular fraction. The hematological overview showed significant decreases in the values of red blood cell indices and an increase in red cell distribution width value in thalassemia subjects when compared with those of healthy subjects. The implementation of a predictive model based on Partial Least Square Discriminant Analysis (PLS-DA) for β-thalassemia diagnosis, was performed and validated. This model permitted the discrimination of anemic patients and healthy individuals and was able to detect thalassemia in clinically heterogeneous patients as in the presence of δβ-thalassemia and β-thalassemia combined with Hb Lepore. TGA and Chemometrics are capable of predicting ß-thalassemia syndromes using only a few microliters of blood without any pretreatment and with an hour of analysis time. A fast, rapid and cost-effective diagnostic tool for the β-thalassemia screening is proposed. © 2016 Elsevier B.V.