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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Andrea di Bello
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da MD. Cappellini

Emoglobinopatie: quadri clinici e ruolo del laboratorio tra realtà e prospettive future
Hemoglobinopathies: clinical pictures and role of the laboratory between reality and future prospects.
<p>The term hemoglobinopathies generally includes all the defects of the globin genes. In most of the cases, these defects are transmitted as autosomal recessive patterns and are in the heterozygous state, clinically asymptomatic. A substantial variability in hematological and clinical phenotypes is observed when defects occur in the homozygous state, in heterozygous compounds or are associated with variations in non-globin genes. The marked hematological, molecular and clinical heterogeneity of hemoglobinopathies requires experience and competence for the use of different technologies, the organization of the diagnostic procedures and for the clinical management of patients as well. There is no doubt that the numerous hemoglobin variants and different combinations observed nowadays are the result of migratory movements that have taken place in recent decades with the arrival in Italy and Europe of important numbers of subjects, mostly from territories where hemoglobin defects are particularly present. The laboratory tests, defined as 1st level or primary screen, are still the fundamental step of the diagnostic approach to hemoglobinopathies and cannot be avoided. However, confirmatory tests and molecular characterization are always required for a diagnostic approach characterized by the combined use of hematological, biochemical and molecular techniques. The laboratory will thus be able to provide the clinician with adequate elements for patient management, in the different contexts of prevention, counseling or therapeutic choices. The laboratory dedicated to hemoglobinopathies is oriented towards precision medicine by acting on levels of increasing complexity, thus providing useful knowledge for the benefit of personalized medicine.</p>
Biochimica Clinica ; 17(1)
Rassegne - Reviews