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Molecular evaluation of hemoglobin D mutations in Mazandaran province, Iran
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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 |
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Abstract: (17067 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. |
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| Keywords: Hemoglobin D Punjab, PCR-RFLP, Hemoglobinopathy, Genetic mutation |
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Full-Text [PDF 437 kb]
[English Abstract]
(16291 Downloads)
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Type of Study: Original Articles |
Subject:
Genetic
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