对意大利β地中海贫血特征患者进行α地中海贫血基因检测的必要性：一例报告。
The need to perform α-thalassemia genetic testing in Italian patients with β-thalassemia trait: A case report.
作者信息
Santoro Graziano, Cro Fabiana, Poma Federica, Kullmann Cristina, Lapucci Cristina, Ferrari Maurizio
机构信息
Genetic Unit, Synlab Italia Brescia Italy.
S.Me.L. Synlab Italia Monza Italy.
出版信息
Clin Case Rep. 2022 Sep 19;10(9):e6340. doi: 10.1002/ccr3.6340. eCollection 2022 Sep.
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.
摘要
在此，我们报告一例撒丁岛女性病例。该女性因贫血被诊断为纯合子β地中海贫血携带者，随后接受了α地中海贫血基因检测，结果显示她两种地中海贫血均为杂合子。这使得能够得出一个确定性诊断，对家族咨询和评估生殖风险很有用。
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