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δβ-Thalassemia and α-Triplication: Is Genetic Retesting Worthwhile in Case of Non-Coherent Phenotype?

Hemoglobin - 1 Sept 2024

Giubbilei Cristina, D'Angelo Simona, Fotzi Ilaria, Mogni Massimo, Guglielmelli Paola, Vannucchi Alessandro Maria, Carrai Valentina

Abstract excerpt

Thalassemia is a heterogenous group of hemoglobinopathies; intermediate thalassemia's phenotype can be very variegated due to different genetic matching. Before NGS-era, diagnosis often mismatched with phenotypes, hiding some genetic findings that nowadays could completely explain clinical presentation. In this report, we emphasize the importance of reevaluating genetic testing to achieve a correct diagnosis in...

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PMID: 39402933
DOI: 10.1080/03630269.2024.2414109

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