title: Thirty-year experience in preventing haemoglobinopathies in Greece: achievements and potentials for optimisation.
abstract: OBJECTIVE
  Beta thalassaemia major (β-TM) and sickle-cell disease (SCD) are severe haemogobinopathies requiring life-lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in Greece during the last 30 yrs.
  
  
  METHODS
  Data of affected births between 01/01/1980 and 31/12/2009 were collected in a nationwide scale, and expected vs. observed rates of new births were calculated and compared. In a subpopulation of affected births of Greek origin, the causes for occurrence of the new affected birth were also collected and analysed.
  
  
  RESULTS
  Overall, the reduction in new cases was 81.1% and 84.6% for β-TM and SCD, respectively. For β-TM, a constant declining trend was recorded over the 30-yr period, whereas for SCD, a transient reversal was observed in the mid-1990s probably due to the significant influx of immigrants of African origin. Programme failure was 2.2 times more common among new β-TM births of Greek origin compared to new SCD cases (P < 0.001). Unawareness and parental choice were more frequent in SCD compared to β-TM (unawareness: OR = 1.4, P = 0.05, parental choice: OR = 1.9, P = 0.01). The main cause for programme failure was carrier misidentification and incorrect genetic advice for β-TM and SCD, respectively.
  
  
  CONCLUSIONS
  The β-TM and SCD prevention programme in Greece has significantly reduced the numbers of new affected births. The outcomes could be optimised in groups of non-Greek origin, in carrier identification and by offering specialised genetic counselling.
authors: Department of Haemoglobinopathies, The Greek Society of Paediatric Haematology and Oncology, Athens, Greece.
authors: Vassilis
authors: V
authors: Ladis
authors: Markissia
authors: M
authors: Karagiorga-Lagana
authors: Ioanna
authors: I
authors: Tsatra
authors: Giorgos
authors: G
authors: Chouliaras
mesh_terms: D000349:Africa / Q000208:ethnology; D000755:Anemia, Sickle Cell / Q000453:epidemiology / Q000235:genetics / Q000266:history / Q000517:prevention & control; D004641:Emigration and Immigration / Q000266:history / Q000639:trends; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006115:Greece / Q000453:epidemiology; D006453:Hemoglobinopathies / Q000453:epidemiology / Q000235:genetics / Q000266:history / Q000517:prevention & control*; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D007231:Infant, Newborn; D009313:National Health Programs / Q000266:history; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics / Q000266:history / Q000517:prevention & control