ArticleBlood transfusion = Trasfusione del sangue2024
Ten years of a neonatal screening program for hemoglobinopathies in Friuli-Venezia Giulia: first regional experience in Italy.
Article in Blood transfusion = Trasfusione del sangue, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Newborn Screening for Hemoglobinopathies and Thalassemias: Brief History, Recent Activities, and Global Status-2026.International journal of neonatal screening · 2026Review
- Mortality, Clinical Complications, and Healthcare Resource Utilization Associated with Managing Transfusion-Dependent β-Thalassemia and Sickle Cell Disease with Recurrent Vaso-occlusive Crises in Italy.PharmacoEconomics - open · 2025Article
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15 authors at 8 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundHemoglobinopathies are the commonest genetic defect worldwide (7% of the world's population has at least one hemoglobin mutation). Although prenatal screening for hemoglobinopathies is not obligatory during pregnancy in Italy, it is offered to women by the Italian National Health Service in the pre-conception phase. The screening of newborns is a valid alternative, and has been adopted in various European countries, albeit in a piecemeal fashion. Neonatal screening has the advantage of providing early diagnosis of a hemoglobinopathy. Here we report the findings from the experience with neonatal screening in Friuli-Venezia Giulia since 2010. MATERIALS AND
methodsThe hemoglobinopathy screening project in Friuli-Venezia Giulia, a Region in north Italy, began in November 2010. High-performance liquid chromatography was performed on dried blood spot samples collected by obstetric nurses from neonates within 5-8 days after birth.
resultsFrom 2010 to 2019, 11,956 newborns were screened, and abnormal hemoglobin was found in 519 of them (4.34%): the variants identified included HbS, HbC, HbD, HbE and HbX. More specifically, the HbS variant was observed in 347 (2.9%) newborns and the homozygous pattern was identified in 24 (0.2%) cases. The screening also detected two cases of β-thalassemia major. DISCUSSION: We report our experience of 10 years of screening newborns for hemoglobinopathies in the Region of Friuli-Venezia Giulia, in which 7.7% of people come from malaria-endemic areas. Increased mobility and migratory flows bringing in hemoglobinopathy carriers from endemic areas have led to an increase in mutations in non-malarial countries, with a current incidence of around 4% in the newborns we tested. This means that hemoglobinopathies can be described as a rare condition. Our data show that incidence rates are comparable to those of other inherited disorders such as phenylketonuria, thereby justifying the inclusion of the test for hemoglobinopathies into screening programs for rare diseases.
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