The ß-thalassemias are recessively inherited disorders of hemoglobin synthesis resulting from mutations in the ß-globin gene cluster and defective ß-globin chain products. Historically, affected patients were commonly classified into two groups, ß-thalassemia major or intermedia, based on the time of presentation, the severity of anemia, and subsequent dependence on regular transfusion therapy. More recently, this classification was revisited and our findings establish, in an evidence-based approach, that patients with ß-thalassemia can be clustered into three groups based on six parameters of phenotype severity. Clustering proved robust based on a low error rate.
We share with you an important work published in the scientific journal "Thalassemia Report" entitled: "Random Forest Clustering Identifies Three Subgroups of ß-Thalassemia with Distinct Clinical Severity".
Among the authors of the manuscript, multiple experts from ERN-EuroBloodNet members are included: Angela Vitrano (Riuniti hospitals Villa Sofia-Cervello - Palermo), Antonella Meloni (Foundation CNR Tuscany Region G. Monasterio), Aldo Filosa (AORN A Cardarelli), Paolo Ricchi (AORN A Cardarelli), Alessia Pepe (Foundation CNR Tuscany Region G. Monasterio) and Aurelio Maggio (Riuniti hospitals Villa Sofia-Cervello - Palermo).