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.
Colombatti, R., Martella, M., Cattaneo, L., Viola, G., Cappellari, A., Bergamo, C., et al. (2019). Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action. PEDIATRIC BLOOD & CANCER, 66(5), e27657 [10.1002/pbc.27657].
|Citazione:||Colombatti, R., Martella, M., Cattaneo, L., Viola, G., Cappellari, A., Bergamo, C., et al. (2019). Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action. PEDIATRIC BLOOD & CANCER, 66(5), e27657 [10.1002/pbc.27657].|
|Tipo:||Articolo in rivista - Articolo scientifico|
|Carattere della pubblicazione:||Scientifica|
|Presenza di un coautore afferente ad Istituzioni straniere:||No|
|Titolo:||Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action|
|Autori:||Colombatti, R; Martella, M; Cattaneo, L; Viola, G; Cappellari, A; Bergamo, C; Azzena, S; Schiavon, S; Baraldi, E; Dalla Barba, B; Trafojer, U; Corti, P; Uggeri, M; Tagliabue, P; Zorloni, C; BRACCHI, M; Biondi, A; Basso, G; Masera, N; Sainati, L|
|Data di pubblicazione:||2019|
|Rivista:||PEDIATRIC BLOOD & CANCER|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1002/pbc.27657|
|Appare nelle tipologie:||01 - Articolo su rivista|