The need to perform alpha-thalassemia genetic testing in Italian patients with beta-thalassemia trait: A case report

Clinical Case Reports(2022)

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摘要
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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关键词
alpha-thalassemia, beta-thalasemia, gap-PCR, genetic counseling, MLPA
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