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

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.

SUBMITTER: Santoro G

PROVIDER: S-EPMC9483816 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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

Santoro Graziano G Cro Fabiana F Poma Federica F Kullmann Cristina C Lapucci Cristina C Ferrari Maurizio M

Clinical case reports 20220919 9

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. ...[more]

PMID: 36188041

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