| Autor: |
Salvatici M; UOC Laboratory of Clinical Medicine with Specialized Areas, IRCCS MultiMedica, Via Fantoli 16/15, 20138 Milan, Italy., Caslini C; Bianalisi, Clinical Laboratory, Via Mattavelli 3, 20841 Carate Brianza, Italy., Alesci S; Bianalisi, Clinical Laboratory, Via Mattavelli 3, 20841 Carate Brianza, Italy., Arosio G; Bianalisi, Clinical Laboratory, Via Mattavelli 3, 20841 Carate Brianza, Italy., Meroni G; Bianalisi, Clinical Laboratory, Via Mattavelli 3, 20841 Carate Brianza, Italy., Ceriotti F; Clinical Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy., Ammirabile M; Clinical Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy., Drago L; UOC Laboratory of Clinical Medicine with Specialized Areas, IRCCS MultiMedica, Via Fantoli 16/15, 20138 Milan, Italy.; Clinical Microbiology and Microbiome Laboratory, Department of Biomedical Sciences for Health, University of Milan, Via Mangiagalli 31, 20133 Milan, Italy. |
| Abstrakt: |
Haemoglobin disorders represent a heterogeneous group of inherited conditions that involve at least one genetic abnormality in one or more of the globin chains, resulting in changes in the structure, function, and/or amount of haemoglobin molecules, which are very important for their related clinical aspects. Detecting and characterizing these disorders depends primarily on laboratory methods that employ traditional approaches and, when necessary, newer methodologies essential for solving a number of diagnostic challenges. This review provides an overview of key laboratory techniques in the diagnosis of haemoglobinopathies, focusing on the challenges, advancements, and future directions in this field. Moreover, many haemoglobinopathies are benign and clinically silent, but it is not uncommon to find unexpected variants during routine laboratory tests. The present work reported a rare and clinically interesting case of identification of haemoglobin fractions in an adult man by the determination of glycated haemoglobin (HbA 1c ) during a routine laboratory assessment, highlighting how the correct use of laboratory data can modify and improve the patient's clinical management. |
