Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz

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 feta...

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Main Authors: Ali Dehghanifard, Mohammad Shahjahani, Hamid Galehdari, Fakher Rahim, Fatemeh Hamid, Kaveh Jaseb, Asnafi Ali Amin, Mohammad Ali Jalalifar, Najmaldin Saki
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2013-04-01
Series:International Journal of Hematology-Oncology and Stem Cell Research
Subjects:
Online Access:http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/372/434
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author Ali Dehghanifard
Mohammad Shahjahani
Hamid Galehdari
Fakher Rahim
Fatemeh Hamid
Kaveh Jaseb
Asnafi Ali Amin
Mohammad Ali Jalalifar
Najmaldin Saki
author_facet Ali Dehghanifard
Mohammad Shahjahani
Hamid Galehdari
Fakher Rahim
Fatemeh Hamid
Kaveh Jaseb
Asnafi Ali Amin
Mohammad Ali Jalalifar
Najmaldin Saki
author_sort Ali Dehghanifard
collection DOAJ
description 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.Materials and 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.Conclusion: 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.
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spelling doaj.art-166e03ed48944cb2ab0e1e95373720c82023-08-02T00:37:08ZengTehran University of Medical SciencesInternational Journal of Hematology-Oncology and Stem Cell Research2008-30092008-22072013-04-01721722Prenatal Diagnosis of different Polymorphisms of β-globin Gene in AhvazAli DehghanifardMohammad ShahjahaniHamid GalehdariFakher RahimFatemeh HamidKaveh JasebAsnafi Ali AminMohammad Ali JalalifarNajmaldin SakiBackground: 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.Materials and 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.Conclusion: 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.http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/372/434Hemoglobinopathyβ- thalassemiaPrenatal DiagnosisPolymorphism
spellingShingle Ali Dehghanifard
Mohammad Shahjahani
Hamid Galehdari
Fakher Rahim
Fatemeh Hamid
Kaveh Jaseb
Asnafi Ali Amin
Mohammad Ali Jalalifar
Najmaldin Saki
Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
International Journal of Hematology-Oncology and Stem Cell Research
Hemoglobinopathy
β- thalassemia
Prenatal Diagnosis
Polymorphism
title Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
title_full Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
title_fullStr Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
title_full_unstemmed Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
title_short Prenatal Diagnosis of different Polymorphisms of β-globin Gene in Ahvaz
title_sort prenatal diagnosis of different polymorphisms of β globin gene in ahvaz
topic Hemoglobinopathy
β- thalassemia
Prenatal Diagnosis
Polymorphism
url http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/372/434
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