title: Effectiveness of β-thalassemia prenatal diagnosis in Southern Iran: a cohort study.
abstract: OBJECTIVE
  The aim of this study was to evaluate the effectiveness of prenatal diagnosis (PND) for the prevention of thalassemia in Southern Iran.
  
  
  METHODS
  From 2004 to 2012 1346 couples with β-thalassemia minor were referred to our center. Mutation analyses utilized different methods including polymerase chain reaction-based technique of amplification refractory mutation system (ARMS), Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments (PCR-RFLP) and Gel Electrophoresis and direct sequencing. Haplotype analysis of the β-globin gene cluster was done routinely using the PCR-RFLP technique.
  
  
  RESULTS
  Of the 1346 couples, 884 (66%) requested PND. They had a total of 985 pregnancies (954 singleton and 31 twin pregnancies): the 1016 fetuses underwent chorionic villus sampling (CVS). Thalassemia major was diagnosed in 266 cases (26.2%), and termination of pregnancy was requested by the parents in 264 of them (99%). Thalassemia trait was detected in 499 (49.1%) and 251 cases (24.7%) showed no β-thalassemia mutations. There were three misdiagnoses (0.4%) (affected children diagnosed as carriers at PND). A unique pattern of thalassemia mutations was present in the study population, with IVS II-I (G→A), C36-37(-T), IVS I-5(G>C), -25bpdel (252-276), IVS I-110(G>A) and C44 (-C) being present in 62% of cases.
  
  
  CONCLUSIONS
  The pattern of distribution of thalassemia mutations differs among ethnic groups within the same country.
authors: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Mohamad
authors: M
authors: Moghadam
authors: Hematology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Mehran
authors: M
authors: Karimi
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Seyed Javad
authors: SJ
authors: Dehghani
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Javad
authors: J
authors: Dehbozorgian
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Somaye
authors: S
authors: Montazeri
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Elham
authors: E
authors: Javanmardi
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Rahimeh
authors: R
authors: Asadzade
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Azizollah
authors: A
authors: Amiri
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Zahra
authors: Z
authors: Saghatoleslam
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Fatemosadat
authors: F
authors: Sotodegan
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Nazila
authors: N
authors: Morshedi
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Jaber
authors: J
authors: Imanifard
authors: Thalassemia and Hemophillia Genetic, PND Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors: Abdolreza
authors: A
authors: Afrasiabi
mesh_terms: D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D006239:Haplotypes; D006801:Humans; D007492:Iran; D008297:Male; D011296:Prenatal Diagnosis; D017086:beta-Thalassemia / Q000235:genetics / Q000517:prevention & control*