title: Prenatal Diagnosis of Different Polymorphisms of β-globin Gene in Ahvaz.
abstract: BACKGROUND
  Hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. Beta thalassemia is one of these disorders with high prevalence in Iran, especially in Khuzestan province. In this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated.
  
  
  METHODS
  In this experimental pilot study, 316 fetal samples (chorionic villus or amniotic fluid) suspicious to hemoglobin disorders were enrolled. Afterwards, DNA was extracted and PCR and DNA sequencing were used for evaluation of different mutations in β-globin gene.
  
  
  RESULTS
  Amongst 316 samples evaluated for prenatal diagnosis, 180 cases (56.8%) were carrying at least one mutated gene of β-thalassemia. In addition, results showed that CD 36-37 (- T) and IVS II-1 (G > A) polymorphisms are the most prevalent polymorphisms of β-thalassemia in Ahvaz city with 13.9% and 10.1% rates, respectively.
  
  
  CONCLUSIONS
  Using molecular tests for prenatal diagnosis is considered an efficient approach for reducing the birth of children with hemoglobinopathy and identification of prevalent mutations in each region.
authors: Sarem Cell Research Center-SCRC, Sarem Women's Hospital, Tehran, Iran.
authors: Ali
authors: A
authors: Dehghanifard
authors: Department of Hematology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
authors: Mohammad
authors: M
authors: Shahjahani
authors: Department of Genetics, Shahid Chamran University, Ahvaz, Iran.
authors: Hamid
authors: H
authors: Galehdari
authors: Toxicology Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Fakher
authors: F
authors: Rahim
authors: Research Center of Thalassemia &Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Fatemeh
authors: F
authors: Hamid
authors: Research Center of Thalassemia &Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Kaveh
authors: K
authors: Jaseb
authors: Research Center of Thalassemia &Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Ali Amin
authors: AA
authors: Asnafi
authors: Research Center of Thalassemia &Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Mohammad Ali
authors: MA
authors: Jalalifar
authors: Research Center of Thalassemia &Hemoglobinopathy, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
authors: Najmaldin
authors: N
authors: Saki
keywords: Hemoglobinopathy; Polymorphism; Prenatal diagnosis; β-thalassemia