The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report. Issue 9 (19th September 2022)

• Record Type: Journal Article
• Authors: Santoro, Graziano; Cro, Fabiana; Poma, Federica; Kullmann, Cristina; Lapucci, Cristina; Ferrari, Maurizio
• Is Part Of: Clinical case reports. Volume 10:Issue 9(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2022-09-19
• Subjects: alpha‐thalassemia -- beta‐thalasemia -- gap‐PCR -- genetic counseling -- MLPA; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.6340
• Languages: English
• ISSNs: 2050-0904

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. Abstract : This case report outlines the importance to consider α‐thalassemia genetic testing in patients with β‐thalassemia trait in areas of Italy where both thalassemias are endemic and in those whose prevalence increased due to immigrations to reach a definitive diagnosis for establishing the best medical practice and for assessing offspring risk.