Ten years of a neonatal screening program for hemoglobinopathies in Friuli-Venezia Giulia: first regional experience in Italy

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.PMID:38063788 | DOI:10.2450/BloodTransfus.646

Source: Blood Transfusion - December 8, 2023 Category: Hematology Authors: Epifania R Testa Margherita Robazza Francesca Barbieri Laura Travan Maria P Miani Elisabetta Miorin Ingrid Toller Danica Dragovic Valentina Moretti Stefano Facchin Patrizia Valeri Luciana Geremia Valeria Brunetta Roberto Dall'Amico Andrea Bontadini Source Type: research