Original article

Ahead-of-Print

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

Authors

Key words: hemoglobinopathy, screening, newborn, SCD, HPLC
Publication Date: 2023-11-30

Abstract

Background - Hemoglobinopathies 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 methods - The 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.

Results - From 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 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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Authors

Epifania Rita Testa - Blood Transfusion Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Margherita Robazza - Pediatric Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Francesca Barbieri - Pediatric Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Laura Travan - Neonatology and Intensive Care, IRCCS Burlo Garofalo, Trieste, Italy; 4Pediatric Unit, San Daniele Hospital, San Daniele, Italy

Maria Paola Miani - Pediatric Unit, San Daniele Hospital, San Daniele, Italy

Elisabetta Miorin - Pediatric Unit, Latisana-Palmanova Hospital, Latisana and Palmanova, Italy

Ingrid Toller - Pediatric Unit, Tolmezzo Hospital, Tolmezzo, Italy

Danica Dragovic - Pediatric Unit, Monfalcone Hospital, Monfalcone, Italy

Valentina Moretti - Pediatric Unit, San Vito al Tagliamento Hospital, San Vito al Tagliamento, Italy

Stefano Facchin - Pediatric Department, San Giorgio Polyclinic, Pordenone, Italy

Patrizia Valeri - Blood Transfusion Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Luciana Geremia - Blood Transfusion Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Valeria Brunetta - Blood Transfusion Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Roberto Dall'Amico - Pediatric Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

Andrea Bontadini - Blood Transfusion Unit, "Santa Maria degli Angeli" Hospital, Pordenone, Italy

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