The need to perform α-thalassemia genetic testing in Italian patients with β-thalassemia trait: A case report.
Graziano SantoroFabiana CroFederica PomaCristina KullmannCristina LapucciMaurizio FerrariPublished in: Clinical case reports (2022)
Here, we describe a case report of a Sardinian woman diagnosed as pure beta-thalassemia carrier for her anemia who underwent to alpha-thalassemia genetic testing that revealed she was heterozygous for both thalssemias. This allowed to reach a conclusive diagnosis useful for family counseling and for assess the reproductive risk.