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

Raccomandazioni per la diagnosi neonatale delle emoglobinopatie

RUSSO, Giovanna;
2015-01-01

Abstract

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
2015
hemoglobinopathy; newborn screening; thalassemia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/20102
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