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

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...

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Detalles Bibliográficos
Autores principales: Santoro, Graziano, Cro, Fabiana, Poma, Federica, Kullmann, Cristina, Lapucci, Cristina, Ferrari, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483816/
https://www.ncbi.nlm.nih.gov/pubmed/36188041
http://dx.doi.org/10.1002/ccr3.6340
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author Santoro, Graziano
Cro, Fabiana
Poma, Federica
Kullmann, Cristina
Lapucci, Cristina
Ferrari, Maurizio
author_facet Santoro, Graziano
Cro, Fabiana
Poma, Federica
Kullmann, Cristina
Lapucci, Cristina
Ferrari, Maurizio
author_sort Santoro, Graziano
collection PubMed
description 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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spelling pubmed-94838162022-09-29 The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report Santoro, Graziano Cro, Fabiana Poma, Federica Kullmann, Cristina Lapucci, Cristina Ferrari, Maurizio Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-09-19 /pmc/articles/PMC9483816/ /pubmed/36188041 http://dx.doi.org/10.1002/ccr3.6340 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Santoro, Graziano
Cro, Fabiana
Poma, Federica
Kullmann, Cristina
Lapucci, Cristina
Ferrari, Maurizio
The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title_full The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title_fullStr The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title_full_unstemmed The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title_short The need to perform α‐thalassemia genetic testing in Italian patients with β‐thalassemia trait: A case report
title_sort need to perform α‐thalassemia genetic testing in italian patients with β‐thalassemia trait: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483816/
https://www.ncbi.nlm.nih.gov/pubmed/36188041
http://dx.doi.org/10.1002/ccr3.6340
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