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Abstract #2008

Genotypic Groups as Risk Factor for Cardiac MR Abnormalities and Complications in Thalassemia Major

Laura Pistoia1, Antonella Meloni1, Massimiliano Missere2, Paolo Preziosi3, Giuseppe Peritore4, Ada Riva5, Valentina Vinci6, Giovanni Palazzi7, Alessandra Spiga8, Alessandra Quota9, Vincenzo Positano1, and Alessia Pepe1

1Fondazione G. Monasterio CNR-Regione Toscana, Pisa, Italy, 2Fondazione di Ricerca e Cura "Giovanni Paolo II", Campobasso, Italy, 3Ospedale "Sandro Pertini", Roma, Italy, 4"ARNAS" Civico, Di Cristina Benfratelli, Palermo, Italy, 5Ospedale “SS. Annunziata” ASL Taranto, Taranto, Italy, 6Azienda Ospedaliera "Garibaldi", Presidio Ospedaliero Nesima, Catania, Italy, 7Policlinico di Modena, Modena, Italy, 8P.O. Pediatrico Microcitemico “A.CAO”, Cagliari, Italy, 9Ospedale "V. Emanuele III", Gela (CL), Italy

On the basis of the type of gene mutation, three groups of patients with thalassemia major (TM) were identified: homozygotes β+, compound heterozygotes β+/β° and homozygotes β°. Compared to the milder genotype group homozygotes β+, the other two groups showed a significantly higher risk of myocardial iron overload (MIO) and left ventricular dysfunction. Moreover, homozygotes β° showed a significantly higher risk of CC than homozygotes β+ patients. These data support the knowledge of the different genotypic groups in the clinical management of β-TM patients.

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