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The Need to Perform α-thalassemia Genetic Testing in Italian Patients with β-thalassemia Trait: A Case Report

Overview
Journal Clin Case Rep
Date 2022 Oct 3
PMID 36188041
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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.

Citing Articles

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

Santoro G, Cro F, Poma F, Kullmann C, Lapucci C, Ferrari M Clin Case Rep. 2022; 10(9):e6340.

PMID: 36188041 PMC: 9483816. DOI: 10.1002/ccr3.6340.

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