English 
Italian Raccomandazioni per la diagnosi neonatale delle emoglobinopatie
AUTORI
1Laboratorio di Genetica Umana, Ospedali Galliera, Genova - Società Italiana Talassemie ed Emoglobinopatie (SITE)
2UO Medicina di Laboratorio, Azienda ULSS n.9, Treviso - SITE
3UO Talassemia, Azienda Ospedaliera Garibaldi, Catania - SITE
4Laboratorio Generale, Azienda Ospedaliero-Universitaria Careggi, Firenze - SIBioC
5Centro Interdipartimentale per la Riferibilità Metrologica di Laboratorio (CIRME) e Dipartimento di Fisiopatologia medicochirurgica e dei trapianti, Università degli Studi di Milano - SIBioC
6Dipartimento di Scienze Mediche e Pediatriche, Università di Catania, Catania - Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP)
7Laboratorio Centralizzato, Azienda Ospedaliero–Universitaria Policlinico S.Orsola-Malpighi, Bologna
8Dipartimento di Medicina di Laboratorio, Azienda Ospedaliera-Università di Padova, Padova
9Servizio di Immunoematologia e Medicina Trasfusionale, A.O. Santa Maria degli Angeli, Pordenone
10Hemoglobinopathies Laboratory, Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
ABSTRACT
Recommendations for the diagnosis of hemoglobinopathies at birth
The laboratory plays an important role in the diagnosis of hemoglobin defects at any age. At the time of birth its role is particularly significant, considering that frequently the newborn has not clinical signs, even when he is carrying thalassemia or other structural defects of hemoglobin. The diagnostic precocity in the affected newborn will help to predict risk, determine appropriate prophylaxis and prevent complications. It may also be helpful for programming treatment and parent control, and planning a prevention for a future pregnancy. In Italy, there have been important demographic and social health changes over the past decade that have suggested the implementation of hemoglobinopathy screening at birth. In addition, the need to know the hemoglobin pattern of the cord blood for possible biobank storage should be regarded as another relevant target. Therefore, it seems timely to define pathways, scope and limits of a correct thalassemia diagnosis at birth through specific recommendations. The Italian Society of Thalassemias and Haemoglobinopathies (SITE) had already published recommendations for first level thalassemia diagnosis, which were primarily focused on preconceptional prevention. This new document provides essential guidance about laboratory methods, pre- and post analytical information flows and about the most appropriate approach to be followed.