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:: Volume 20, Issue 4 (Scientific Journal of Kurdistan University of Medical Sciences 2015) ::
SJKU 2015, 20(4): 26-32 Back to browse issues page
Beta globine gene mutations in blood transfusion-dependent beta -thalassemia major patients in Kurdistan Province hospitals
Arezoo Darabi 1, Fatemeh Keshavarzi Dr2, Bahareh Sedaghatikhayat 3, Pezhman Salehifar 4, Mahboobeh Masoudifar 5, Azad Fattahy Rad Dr6, Siroos Zeinali Dr7, Mohammad Sadegh Fallah Dr 8
1- Department of biology, Sanandaj Branch, Islamic Azad university, sanandaj, Iran
2- Department of Genetics, Sanandaj Branch, Islamic Azad University, Sanandaj , Iran
3- Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, ShahidBeheshti University of Medical Sciences, Tehran, Iran
4- Blood Transfusion Organization of Kurdistan
5- Kawsar Human Genetics Research Center,Tehran, Iran
6- Tohid Hospital ,Kurdistan University of Medical Science, Sanandaj , Iran
7- Pasteur Institute of Iran
8- KawsarHuman Genetics Research Center,Tehran, Iran,Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, ShahidBeheshti University of Medical Sciences, Tehran, Iran. , sadegh.fallah@gmail.com
Abstract:   (2652 Views)

Background and Aim: Beta-thalassemia is a common autosomal recessive disorder of hemoglobin synthesis. About 200 mutations of beta globin genes have been detected .This study was performed to determine beta globin gene mutations in blood transfusion dependent pa­tients in Kurdistan Province hospitals from June 2012 to April 2014 .

Material and Methods: This descriptive study included sixthy eight blood transfusion dependent pa­tients with beta- thalassemia major who had referred to Kurdistan Province hospital.Patients and their parents completed our  questionnaires. Based on CBC and hemoglobin electro­phoresis results diagnosis of beta thalassemia was made. 5 ml blood was obtained from every participant and DNA was extracted by using standard salting out method. Then we investigated beta globin gene mutations by ARMS-PCR  method and DNA sequencing.

Results: The most prevalent mutations were IVS-II-1 in 30 allels (22.5%), Fr8-9(+G) in 22 allels (15.94%), IVS-I-1 in 13 allels (9.42%) and C36/37 in 11 allels (7.97%). Among 138 allels, types of mutations in 42 allels of assessed 138 allels remained unknown.

Conclusion: The results of this study were compatible with those of another study performed in Sanandaj in 2003, but in our study, mutation of C36/37 was more prevalent.

Keywords: Beta thalassemia, ARMS-PCR, Kurdistan

 

Received: Sep 28, 2014      Accepted: Jul 6, 2015

Keywords: Beta thalassemia, ARMS-PCR, Kurdistan
Full-Text [PDF 800 kb]   (665 Downloads)    
Type of Study: Research | Subject: General
Received: 2015/10/17 | Accepted: 2015/10/17 | Published: 2015/10/17
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Darabi A, Keshavarzi F, Sedaghatikhayat B, Salehifar P, Masoudifar M, Fattahy Rad A, et al . Beta globine gene mutations in blood transfusion-dependent beta -thalassemia major patients in Kurdistan Province hospitals. SJKU. 2015; 20 (4) :26-32
URL: http://sjku.muk.ac.ir/article-1-1960-en.html


Volume 20, Issue 4 (Scientific Journal of Kurdistan University of Medical Sciences 2015) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
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