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La Rivista Italiana della Medicina di Laboratorio 2021 Mar 02

DOI: 10.23736/S1825-859X.21.00094-3

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: Italian

The Laboratory for the diagnosis of hemoglobinopathies at birth and in adults

Giuseppina BARBERIO

U.O.C. Medicina di Laboratorio, Ospedale di Treviso, ULSS2 Marca trevigiana, Treviso, Italia


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The importance of the laboratory in the diagnosis and management of hemoglobinopathies has been repeatedly mentioned and considered. Today, more than ever, in a reality in which we are witnessing the growing "question" of hemoglobinopathies in Europe and with the continuous improvement of hematological and molecular diagnostic techniques, there is a need to reaffirm the role and responsibility of the laboratory in prevention, especially of beta thalassemia and HbS. Prevention that is implemented through screening in different periods of life, aiming today, much more than in the past, at dedicated consultancy at different levels, in order to make each laboratory commitment more appropriate and effective. The marked heterogeneity of genetic variations that characterizes globin genes requires constantly evolving analytical paths and techniques. The laboratory, aiming at precision medicine, contributes to the clinicians' commitment to personalized medicine.


KEY WORDS: Thalassemia; Hemoglobinopathies; Prevention; Diagnosis; Consulence

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