Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
This study showed the high effectiveness and the rapid identification of all mutation types in both α- and β-globin genes, including silent variants. It should be emphasized that the NGS approach greatly shortens turnaround reporting times, overcoming the classic diagnostic flowchart which envisages multistep, subsequent, diagnostic approaches, often requiring long resolution times.
Authors
- Paola Bisceglia (ORCID: https://orcid.org/0000-0001-5684-9714)
- Rita Selvatici (ORCID: https://orcid.org/0000-0002-3099-0100)
- Simone Salerio (ORCID: https://orcid.org/0000-0002-3092-1180)
- Domenico Coviello (ORCID: https://orcid.org/0000-0001-8440-865X)
- Giuseppe Tringali (ORCID: https://orcid.org/0000-0002-1030-9429)
- Nicoletta Grifone
- Alice Margutti (ORCID: https://orcid.org/0000-0002-2056-1660)
- Massimo Maffei (ORCID: https://orcid.org/0000-0002-2453-9065)
- Valentina Guida (ORCID: https://orcid.org/0000-0003-3946-645X)
- Alessandro De Luca (ORCID: https://orcid.org/0000-0002-4408-8062)
- Massimo Mogni
- Alessandra Ferlini (ORCID: https://orcid.org/0000-0001-8385-9870)
- Cristina Curcio (ORCID: https://orcid.org/0009-0000-2352-0357)
- Angela Alberico (ORCID: https://orcid.org/0000-0001-6364-8531)
- Laura Bocciardo
- Giuseppina Stoico
- Vittoria Nagliati
- Milena Agata Irrera
- Cristina Melles
- Erica Melchionda
Institutions
- University of Ferrara (IT)
- Casa Sollievo della Sofferenza (IT)
- Istituto Giannina Gaslini (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-12-27
- DOI
- https://doi.org/10.3390/genes16010028
- Citations
- 2
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.88
Funders
- Ministero della Salute
- Regione Liguria