The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report

Abstract

Abstract 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.

Keywords

• alpha‐thalassemia
• beta‐thalasemia
• gap‐PCR
• genetic counseling
• MLPA