title: Incidence of alpha-globin gene defect in the Lebanese population: a pilot study.
abstract: BACKGROUND
  It is well established that the Mediterranean and Arab populations are at high risk for thalassemias in general and for alpha-thalassemia in particular. Yet, reports on alpha-thalassemia in Lebanon are still lacking. In this study, we aim at assessing the incidence of alpha-thalassemia in the Lebanese population.
  
  
  METHODS
  230 newborns' dried blood cards remaining from routine neonatal screening at the American University of Beirut Medical Center were collected for DNA extraction. Samples were screened for the 21 most common α-globin deletions and point mutations reported worldwide, through multiplex Polymerase Chain Reaction (PCR) and Reverse-Hybridization technique.
  
  
  RESULTS
  Upon analyses, the carrier rate of α-thalassemia was found to be 8%. Two mutations detected the -α(3,7) single gene deletion found in 75% of cases and the nongene deletion α2 IVS1 [-5nt] in the remaining samples.
  
  
  CONCLUSIONS
  This study is the first dedicated to investigate α-thalassemia trait incidence in Lebanon. Data obtained demonstrates a high carrier rate in a relatively, highly consanguineous population; it also highlighted the presence of two common mutations. These results may be of an important impact on premarital and newborn screening policies in our country.
authors.affiliation: Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon ; Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Chantal
authors.identifier: 0000-0003-3200-1086
authors.initials: C
authors.lastname: Farra
authors.affiliation: Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Rose
authors.initials: R
authors.lastname: Daher
authors.affiliation: Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Badra
authors.affiliation: Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Rym
authors.initials: R
authors.lastname: el Rafei
authors.affiliation: Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Rachelle
authors.identifier: 0000-0001-8213-769X
authors.initials: R
authors.lastname: Bejjany
authors.affiliation: Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Lama
authors.initials: L
authors.lastname: Charafeddine
authors.affiliation: Department of Pediatrics & Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Khalid
authors.identifier: 0000-0002-6384-2745
authors.initials: K
authors.lastname: Yunis
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007861:Lebanon; D009154:Mutation; D015997:Neonatal Screening; D010865:Pilot Projects; D017384:Sequence Deletion; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics* / Q000473:pathology
chemical_list: D055542:alpha-Globins
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