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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