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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.

DOI:10.1002/ccr3.6340
PMID:36188041
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9483816/
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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab07/9483816/f893f4d58686/CCR3-10-e6340-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab07/9483816/f893f4d58686/CCR3-10-e6340-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ab07/9483816/f893f4d58686/CCR3-10-e6340-g001.jpg

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本文引用的文献

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Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.α地中海贫血的分子检测：常用技术综述
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Alpha-thalassemia. Case report alpha-thalassemia in a Costa Rican family, A case report.α地中海贫血。哥斯达黎加一个家庭中α地中海贫血的病例报告。
Clin Case Rep. 2020 Nov 29;9(1):291-293. doi: 10.1002/ccr3.3518. eCollection 2021 Jan.
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Non-invasive prenatal diagnosis of beta-thalassemia by semiconductor sequencing: a feasibility study in the sardinian population.
通过半导体测序进行β地中海贫血的非侵入性产前诊断：在撒丁岛人群中的可行性研究
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