title: Alpha thalassemia allelic frequency in Lebanon.
abstract: BACKGROUND
  Hemoglobinopathies are the most common reported monogenic disorders worldwide. It is well established that Mediterranean and Arab countries are high risk areas for thalassemia in general, and for alpha thalassemia in particular. Reports of alpha thalassemia gene mutations from the Lebanese population are limited.
  
  
  METHODS
  We investigated the spectrum of alpha thalassemia mutations in a sample of 70 unrelated Lebanese families. Six different mutations of alpha thalassemia gene were identified.
  
  
  RESULTS
  The most prevalent mutations were the single gene deletion -α(3.7) (43%) and the non-gene deletion α2 IVS1 [-5nt] (37%). The double deletional determinant -(MED) was detected only in 14% of thalassemic chromosomes.
  
  
  CONCLUSIONS
  We determined the mutational spectrum of alpha thalassemia which might be used in the future for molecular investigations of the disease in susceptible patients in our population.
authors.affiliation: Department of Pathology & Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
authors.forename: Chantal
authors.initials: C
authors.lastname: Farra
authors.forename: Rebecca
authors.initials: R
authors.lastname: Badra
authors.forename: Farah
authors.initials: F
authors.lastname: Fares
authors.forename: Samar
authors.initials: S
authors.lastname: Muwakkit
authors.forename: Ghassan
authors.initials: G
authors.lastname: Dbaibo
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Dabbous
authors.forename: Hanine
authors.initials: H
authors.lastname: Ashkar
authors.forename: Carla
authors.initials: C
authors.lastname: Mounsef
authors.forename: Miguel R
authors.initials: MR
authors.lastname: Abboud
mesh_terms: D005190:Family; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012189:Retrospective Studies; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000097:blood / Q000453:epidemiology / Q000235:genetics*
chemical_list: D055542:alpha-Globins
keywords: Lebanon; alpha thalassemia; hemoglobinopathies; mutational spectrum