Open AccessThe need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
Author(s) -
Santoro Graziano,
Cro Fabiana,
Poma Federica,
Kullmann Cristina,
Lapucci Cristina,
Ferrari Maurizio
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.6340
Subject(s) - medicine , thalassemia , genetic counseling , trait , beta thalassemia , genetic testing , pediatrics , genetics , biology , computer science , programming language
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.