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Thalassemia Reports
Volume 2
Issue 1
10.4081/thal.2012.e3
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Article

Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study

by
Veronica Agrigento
1,
Giuseppina Calvaruso
1,
Serena Sclafani
1,
Aurelio Maggio
1,
Valeria Lo Nigro
2 and
Elena D’Alcamo
1,*
1
Azienda Ospedali Riuniti Villa Sofia-Cervello, Ospedale V. Cervello UOC Ematologia per le Malattie Rare del Sangue e degli Organi Ematopoietici, 90146 Palermo, Italy.
2
Dipartimento di Scienze Statistiche e Matematiche Università degli Studi di Palermo, 90128 Palermo, Italy
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2012, 2(1), e3; https://doi.org/10.4081/thal.2012.e3
Submission received: 27 July 2012 / Revised: 18 October 2012 / Accepted: 22 October 2012 / Published: 22 November 2012

Abstract

Cardiac disease in thalassemia is determined by the accumulation of iron in the tissue. Genetic factors could influence the severity and the rapidity of the modifications of the cardiac tissue. Mutations or polymorphisms of genes have already been described as being implicated in cardiac disease. In particular, we studied the polymorphisms C1091T in the Connexin 37 gene (CX 37), 4G -668 5G in the Plasminogen Activator Inhibitor-1 gene (PAI 1) and 5A-1171 6A in the Stromelysin-1 gene (SL) in 193 randomly selected patients affected by hemoglobinopathies and 100 normal subjects randomly selected from the general population. A retrospective analysis based on history, clinical data and imaging studies was carried out to assess the presence and type of heart disease. The results of our study do not demonstrate a close association between polymorphism in these candidate genes and cardiac disease, and in particular with myocardial infarction in a cohort of Sicilian patients affected by hemoglobinopathies.

Keywords: heart disease; PAI-1; stromelysin; connexin 37 heart disease; PAI-1; stromelysin; connexin 37

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MDPI and ACS Style

Agrigento, V.; Calvaruso, G.; Sclafani, S.; Maggio, A.; Lo Nigro, V.; D’Alcamo, E. Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study. Thalass. Rep. 2012, 2, e3. https://doi.org/10.4081/thal.2012.e3

AMA Style

Agrigento V, Calvaruso G, Sclafani S, Maggio A, Lo Nigro V, D’Alcamo E. Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study. Thalassemia Reports. 2012; 2(1):e3. https://doi.org/10.4081/thal.2012.e3

Chicago/Turabian Style

Agrigento, Veronica, Giuseppina Calvaruso, Serena Sclafani, Aurelio Maggio, Valeria Lo Nigro, and Elena D’Alcamo. 2012. "Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study" Thalassemia Reports 2, no. 1: e3. https://doi.org/10.4081/thal.2012.e3

APA Style

Agrigento, V., Calvaruso, G., Sclafani, S., Maggio, A., Lo Nigro, V., & D’Alcamo, E. (2012). Influence of Genetic Polymorphisms and Mutations in the Cardiac Pathology of Iron Overload in Thalassemia and Sickle Cell Anemia Patients: A Retrospective Study. Thalassemia Reports, 2(1), e3. https://doi.org/10.4081/thal.2012.e3

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