title: Sickle cell disease in areas of immigration of high-risk populations: a low cost and reproducible method of screening in northern Italy.
abstract: BACKGROUND
  From 2005 to 2010, we observed a 10-fold increase of newly diagnosed sickle cell disease in children in the province of Modena (northern Italy). The median age at diagnosis was 24 months. Since these children are too old for optimal disease management, earlier detection of the disease is needed for prophylaxis and comprehensive care before the occurrence of clinical manifestations.
  
  
  METHODS
  In each Maternity Unit of the province of Modena, blood samples are collected daily for assessment of haemolytic disease of the newborn. We designed a selective, low-cost haemoglobin screening for sickle cell disease in high-risk immigrants. We enrolled 469 mothers from sub-Saharan countries and their neonates for a primary screening of peripheral blood haemoglobin variants using high-performance liquid chromatography.
  
  
  RESULTS
  Of the 469 women approached, 330 (70.36%) agreed to undergo the test. Ninety-two (27.88%) were carriers of variant haemoglobin, 48 newborns (51%) of these carriers had the carrier trait and 9 (9.6%) were affected (haemoglobin SC compound heterozigote - HbSC, haemoglobin S homozygote - HbSS).
  
  
  CONCLUSIONS
  These results support the feasibility and usefulness of a selective screening for the detection of haemoglobin variants in high-risk subjects in an area in which sickle cells disease is not endogenous. We achieved the goal of detecting subjects with carrier trait/disease in order to implement preventive measures that reduce the clinical manifestations of sickle cell disease. We are, however, aware that it will be necessary to extend this screening to the overall population in the near future.
authors.affiliation: Transfusion Medicine Department, University Hospital of Modena, Modena, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Venturelli
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Mariachiara
authors.initials: M
authors.lastname: Lodi
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Palazzi
authors.affiliation: Laboratory Medicine Department, University Hospital of Modena, Modena, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Bergonzini
authors.affiliation: Transfusion Medicine Department, University Hospital of Modena, Modena, Italy.
authors.forename: Giada
authors.initials: G
authors.lastname: Doretto
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Zini
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Cellini
authors.initials: C
authors.lastname: Monica
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: M Carmen
authors.initials: MC
authors.lastname: Cano
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Mariotti
authors.initials: M
authors.lastname: Ilaria
authors.affiliation: Transfusion Medicine Department, University Hospital of Modena, Modena, Italy.
authors.forename: Giuliano
authors.initials: G
authors.lastname: Montagnani
authors.affiliation: Department of Mother and Child, University Hospital of Modena, Modena, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Paolucci
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000097:blood / Q000175:diagnosis*; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004641:Emigration and Immigration; D004899:Erythroblastosis, Fetal / Q000097:blood / Q000175:diagnosis; D005260:Female; D006451:Hemoglobin, Sickle / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007558:Italy; D008297:Male; D008403:Mass Screening; D010865:Pilot Projects; D011247:Pregnancy
chemical_list: D006451:Hemoglobin, Sickle