TY - JOUR
T1 - Results of a multicenter universal newborn screening program for sickle cell disease in Italy
T2 - A call to action
AU - Colombatti, Raffaella
AU - Martella, Maddalena
AU - Cattaneo, Laura
AU - Viola, Giampietro
AU - Cappellari, Anita
AU - Bergamo, Chiara
AU - Azzena, Silvia
AU - Schiavon, Sara
AU - Baraldi, Eugenio
AU - Dalla Barba, Beatrice
AU - Trafojer, Ursula
AU - Corti, Paola
AU - Uggeri, Marzia
AU - Tagliabue, Paolo Emilio
AU - Zorloni, Chiara
AU - Bracchi, Michela
AU - Biondi, Andrea
AU - Basso, Giuseppe
AU - Masera, Nicoletta
AU - Sainati, Laura
N1 - Publisher Copyright:
© 2019 Wiley Periodicals, Inc.
PY - 2019/5
Y1 - 2019/5
N2 - Background: Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single-center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies. Population and methods: NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High-performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta-globin gene was performed on positive samples. Results: A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub-Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa–India–South America); carriers of other hemoglobin variants were mainly (47%) from other areas. Conclusions: Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.
AB - Background: Sickle cell disease (SCD) is a chronic multisystem disorder requiring comprehensive care that includes newborn screening (NBS) as the first step of care. Italy still lacks a national SCD NBS program and policy on blood disorders. Pilot single-center screening programs and a regional targeted screening have been implemented so far, but more evidence is needed in order to impact health policies. Population and methods: NBS was offered to parents of newborns in gynecology clinics in Padova and Monza, tertiary care university hospitals in northern Italy. High-performance liquid chromatography (HPLC) was performed as the first test on samples collected on Guthrie cards. Molecular analysis of the beta-globin gene was performed on positive samples. Results: A total of 5466 newborns were enrolled; for 5439, informed consents were obtained. A similar family origin was seen in the two centers (65% Italians, 9% mixed couples, 26% immigrants). Compared with SCD NBS programs in the United States and Europe, our results show a similar incidence of SCD patients and carriers. All SCD patients had a Sub-Saharan family background; HbS carriers were 15% Caucasians (Italian, Albanians) and 10% from other areas (North Africa–India–South America); carriers of other hemoglobin variants were mainly (47%) from other areas. Conclusions: Our results demonstrate the feasibility of a multicentric NBS program for SCD, give information on HbS epidemiology in two Northern Italian Areas, and support previous European recommendation for a universal NBS program for SCD in Italy: a high incidence of patients and carriers has been detected, with a high percentage of Caucasian carriers, impossible to identify in a targeted NBS.
KW - Italy
KW - newborn screening
KW - sickle cell disease
UR - https://www.scopus.com/pages/publications/85061037975
U2 - 10.1002/pbc.27657
DO - 10.1002/pbc.27657
M3 - Article
C2 - 30724025
AN - SCOPUS:85061037975
SN - 1545-5009
VL - 66
JO - Pediatric Blood and Cancer
JF - Pediatric Blood and Cancer
IS - 5
M1 - e27657
ER -