title: Distribution of alpha-thalassemia mutations in Iranian population.
abstract: BACKGROUND
  Alpha-thalassemia as one of the most common monogenetic disorders is widely spread over the Mediterranean, Southeast Asian, and Middle Eastern populations, including Iran. Although beta-thalassemia is much more common than alpha-thalassemia, alpha-thalassemia is still one of the main health problems in Iran with different mutation frequencies in various ethnic groups. So the evaluation of alpha-thalassemia mutations could be helpful to detect carriers as well as prevention strategy in Iranian population.
  
  
  OBJECTIVE
  The aim of this study was to investigate the spectrum and frequencies of alpha-globin mutations in different ethnic groups of southern Iran.
  
  
  METHODS
  Common alpha-globin mutations were evaluated in 4010 Iranian population using a reverse dot blot for all point mutations and gap-polymerase chain reaction.
  
  
  RESULTS
  Out of all individuals, 3993 were distinguished as carriers of alpha-thalassemia mutations. Thirteen types of alpha-thalassemia mutations were discovered. Allele of α(3.7) mutation was the most prevalent (43.84%) followed by the α(IVS1/-5NT) allele with the prevalence of 4.91%. The less frequent alleles were Hb ICARIA and α(codon16) with the prevalence of 0.04 and 0.01%, respectively.
  
  
  CONCLUSIONS
  Our findings are essential for carrier screening, genetic counseling, and prenatal diagnosis in order to decrease the prevalence of α-thalassemia in Iran which is one of the goals of the national screening program.
authors.forename: Javad
authors.initials: J
authors.lastname: Dehbozorgian
authors.forename: Mohamad
authors.initials: M
authors.lastname: Moghadam
authors.forename: Saeed
authors.initials: S
authors.lastname: Daryanoush
authors.forename: Sezaneh
authors.initials: S
authors.lastname: Haghpanah
authors.forename: Jaber
authors.initials: J
authors.lastname: Imani Fard
authors.forename: Azam
authors.initials: A
authors.lastname: Aramesh
authors.forename: Amin
authors.initials: A
authors.lastname: Shahsavani
authors.forename: Mehran
authors.initials: M
authors.lastname: Karimi
mesh_terms: D015331:Cohort Studies; D005817:Genetic Counseling; D006801:Humans; D007492:Iran / Q000453:epidemiology; D009154:Mutation; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D055542:alpha-Globins
keywords: Alpha-globin; Genetic screening; Thalassemia