Investigation of c-582 a>g polymorphism at beta globin cluster gene in beta-thalassemia patients

Parisa Taherzadeh,1 Farshad yazdani-nafchi,2 Arezoo aminian,3 Ahmad shadi,4 Mohammad chehelgerdi,5,*

1. Department of Marine Biotechnology, Faculty of Marine Science and Technology, Persian Gulf University, B
2. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shah
3. Department of Marine Biotechnology, Faculty of Marine Science and Technology, Persian Gulf University, B
4. Department of Marine Biotechnology, Faculty of Marine Science and Technology, Persian Gulf University, B
5. Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shah

Abstract

Introduction

Thalassemia is the most prevalent monogenic disorder worldwide resulting from the inappropriate production of heme. patients need repeated transfusion and this lead to elevated ferritin level and also iron overload. hepcidin, encoded by hamp gene, is a recently discovered 25 amino acid appears to play a crucial role in iron homoeostasis in humans.its function in influenced by different factors including polymorphism in the promoter region, the most prevalent -582a>g. the aim of this study is to investigation of c-582 a>g polymorphism at beta globin cluster gene in beta-thalassemia patients

Methods

In the present study, 100 beta-thalassemia patients including 50 individuals without disease as a control group were investigated. after extraction of blood dna of patients, pcr was done using a primer to evaluate polymorphism.then fragments were run by rflp method. data was analysed using spss statistics 21.

Results

A allele frequency of bstui polymorphism was observed 69% at patient groups; this difference was not statistically significant (p-value=0.58). genotype distribution of this polymorphism was not statistically significant.

Conclusion

B-thalassemic patients with c -582 a>g polymorphism has lower ferritin level, although statistically non-significant. however, simultaneous investigation of this marker could be useful.

Keywords

B-thalassemia major, hepcidin, polymerase chain reaction.