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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

EIC Assistant
Francesco Busardò

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
Chiara Riva
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 V. Caruso

Raccomandazioni per la diagnosi neonatale delle emoglobinopatie
Recommendations for the diagnosis of hemoglobinopathies at birth
<p>The laboratory plays an important role in the&nbsp;diagnosis of hemoglobin defects at any age. At the time of birth its role is particularly significant, considering that&nbsp;frequently the newborn has not clinical signs, even when he is carrying thalassemia or other structural defects of&nbsp;hemoglobin. The diagnostic precocity in the affected newborn will help to predict risk, determine appropriate prophylaxis&nbsp;and prevent complications. It may also be helpful for programming treatment and parent control, and planning a&nbsp;prevention for a future pregnancy. In Italy, there have been important demographic and social health changes over the&nbsp;past decade that have suggested the implementation of hemoglobinopathy screening at birth. In addition, the need to&nbsp;know the hemoglobin pattern of the cord blood for possible biobank storage should be regarded as another relevant&nbsp;target. Therefore, it seems timely to define pathways, scope and limits of a correct thalassemia diagnosis at birth through&nbsp;specific recommendations. The Italian Society of Thalassemias and Haemoglobinopathies (SITE) had already published&nbsp;recommendations for first level thalassemia diagnosis, which were primarily focused on preconceptional prevention. This&nbsp;new document provides essential guidance about laboratory methods, pre- and post analytical information flows and&nbsp;about the most appropriate approach to be followed.</p>
Biochimica Clinica ; 39(2) 116-134
Documenti SIBioC - SIBioC Documents