title: Neonatal screening for sickle cell disease and other hemoglobinopathies in "the changing Europe".
abstract: BACKGROUND
  Inherited hemoglobin disorders (sickle-cell disorders and thalassaemias) represent an increasing global health problem. The early detection of sickle cell disease allows counselling for family members about disease management and future reproductive decisions. The aim of the present study was to estimate the birth prevalence of hemoglobinopathies in newborns of Italian couples and couples of immigrants from endemic areas living in an urban area of northern Italy in order to assess the opportunity of implementing a neonatal screening programme for hemoglobin disorders.
  
  
  METHODS
  Inclusion criteria were infants with at least one of the parents from high risk areas of hemoglobinopathies (Po delta and Sardinia, Italy; Mediterranean area; sub-Saharan Africa; Brazil; Asia) or a positive family history for hemoglobinopathies. The number of infants included in the present study was 337: 13.8% out of 2447 children born at Azienda Ospedaliera Universitaria (AOU) "Maggiore della Carità", Novara, Italy, from 31 December 2012 to 31 January 2014 and 47.6% of 710 infants with at least one foreign parent.
  
  
  RESULTS
  232 infants were wild-type (68.8%) for hemoglobin variants; 48 subjects (14.2%) had no hemoglobin variants, but we could not exclude the presence of a thalassemia trait (Hb A < 15%): a further monitoring of hemoglobin electrophoresis at 6 months was therefore recommended. 20 infants (5.9%) had Hb S (7.7% ± 3 of the total hemoglobin; range 3.5 - 13) and were diagnosed as Hb S carriers and 2 infants (0.6%) had Hb C (7.8% and 12.1% of the total hemoglobin, respectively) and were diagnosed as Hb C carriers.
  
  
  CONCLUSIONS
  Based on our results, we can conclude that: (i) the sickle-cell disorder (Hb S) is relatively high in our territory, with a heterozygous frequency in infants at risk of 5.9%; (ii) the neonatal screening for hemoglobin disorders appears to be a valid, easy to perform test, which allows an early diagnosis and timely payment of hemoglobinopathies in populations at risk.
authors: Roberta
authors: R
authors: Rolla
authors: Matteo
authors: M
authors: Castagno
authors: Mauro
authors: M
authors: Zaffaroni
authors: Barbara
authors: B
authors: Grigollo
authors: Sabrina
authors: S
authors: Colombo
authors: Selena
authors: S
authors: Piccotti
authors: Carlo
authors: C
authors: Dellora
authors: Gianni
authors: G
authors: Bona
authors: Giorgio
authors: G
authors: Bellomo
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D015415:Biomarkers / Q000097:blood; D001774:Blood Chemical Analysis; D054242:Emigrants and Immigrants; D004641:Emigration and Immigration; D005060:Europe / Q000453:epidemiology; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006454:Hemoglobins / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D011237:Predictive Value of Tests; D015995:Prevalence; D012307:Risk Factors; D013997:Time Factors; D014504:Urban Health; D055815:Young Adult
chemical_list: D015415:Biomarkers; D006454:Hemoglobins