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:: Volume 15, Issue 2 (7-2013) ::
J Gorgan Univ Med Sci 2013, 15(2): 65-69 Back to browse issues page
Molecular evaluation of hemoglobin D mutations in Mazandaran province, Iran
Mahdavi MR1 , Roshan P * 2, Yousefian N3 , Hojjati MT4 , Hashemi-Soteh MB5
1- Assistant Professor, Department of Laboratory Medicine, Thalassemia Research Center, Mazandaran University of Medical Sciences, Sari, Iran
2- MSc in Immunology , info@fajrlaboratory.com
3- BSc in Laboratory Medicine
4- MSc in Hematology
5- Associate Professor, Molecular and Cell Biology Research Center, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
Abstract:   (17008 Views)
Background and Objective: Hemoglobinopathies are among the most prevalent genetic disorders worldwide, and occur as a result of mutations in the gene involved in synthesizing hemoglobin chains. By now more than 1000 defects in hemoglobin chains are discovered. Hemoglobin D (Hb D) is one of these disorders, identified by a single nucleotide mutation on codon 121 of beta globin chain. This study was carried out to evaluate Hb D mutations through molecular methods in Mazandaran province of Iran. Materials and Methods: This descriptive laboratory study was done on 70 patients with an electrophoresis band in hemoglobin-S zone in Mazandaran province of Iran during 2010-11. Capillary zone electrophoresis was done to find out Hb D in 51 patients. Subsequently, PCR-RFLP was performed to evaluate the samples at molecular level. Results: Molecular investigation revealed all cases are carriers of hemoglobin D-Punjab. Two patients were shown to be homozygote carriers of the abnormal gene. Conclusion: This study showed all Hb D affected patients were carriers of Hb D Punjab.
Keywords: Hemoglobin D Punjab, PCR-RFLP, Hemoglobinopathy, Genetic mutation
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Type of Study: Original Articles | Subject: Genetic
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Mahdavi MR, Roshan P, Yousefian N, Hojjati MT, Hashemi-Soteh MB. Molecular evaluation of hemoglobin D mutations in Mazandaran province, Iran. J Gorgan Univ Med Sci 2013; 15 (2) :65-69
URL: http://goums.ac.ir/journal/article-1-1721-en.html

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Volume 15, Issue 2 (7-2013) Back to browse issues page
مجله دانشگاه علوم پزشکی گرگان Journal of Gorgan University of Medical Sciences
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