Blood Transfusion - 2 2013 (April - June)
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy
Authors:  Elisa Ballardini, Anna Tarocco, Maria Marsella, Roberto Bernardoni, Gianni Carandina, Claudia Melandri, Giovanni Guerra, Alfredo Patella, Miranda Zucchelli, Alessandra Ferlini, Stefania Bigoni, Anna Ravani, Giampaolo Garani, Caterina Borgna-Pignatti
Pages:  245-249
To cite this article:  Blood Transfus 2013; 11: 245-9
Doi:  10.2450/2012.0030-12
Published online:  12/09/2012

Background. Sickle cell disease (SCD) is the commonest haemoglobinopathy in Africa, the Middle East and India. In recent years, its incidence has increased dramatically also in Europe and North America because of the high rate of migration of people from endemic areas. From January 2009 to January 2010 the number of foreign residents in the province of Ferrara (Italy) increased by 12.2%: most of the immigrants were from countries at high risk of SCD. Since neonatal screening and prophylactic penicillin in early childhood could reduce mortality by 10 years of age to less than 2%, the aim of this study was to establish a neonatal screening programme for haemoglobinopathies in Ferrara.
Materials and methods. First we assessed how many pregnant women underwent haemoglobin analysis by high performance liquid chromatography (HPLC) before or during pregnancy and how many of them were carriers of haemoglobinopathies. Subsequently, we verified the feasibility of neonatal screening for SCD and other haemoglobinopathies, analysing cord blood by HPLC. Neonates found to be positive were managed by a multidisciplinary team to implement all the appropriate prophylactic and therapeutic measures.
Results. We found that 59% of women who delivered at the University Hospital of Ferrara, from 2007 to 2009, had undergone HPLC. Of the 41% who were not tested, many were from areas in which SCD is common. Between September 26th 2010 and January 31st 2012, 1992 neonatal tests were performed and 24 carriers of haemoglobinopathies were identified (16 with HbS, 4 with HbC, 2 with HbE, 1 with HbD Punjab and 1 with HbD-Ouled Rabah); 42.6% of the mothers of these 1,992 neonates had not undergone HPLC during pregnancy.
Discussion. Currently prevention of haemoglobinopathies in Italy is provided during the pre-conception period but only to patients with abnormal blood counts. Neonatal screening is useful and cost-effective to ensure early diagnosis and appropriate treatment for infants with SCD or other haemoglobinopathies.
Keywords: neonatal, screening, haemoglobinopathies, HPLC.
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