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

Santoro Graziano | Zendy; Cro Fabiana | Zendy; Poma Federica | Zendy; Kullmann Cristina | Zendy; Lapucci Cristina | Zendy; Ferrari Maurizio | Zendy

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The 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.

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