Volume 13, Issue 2 (Summer 2016)                   Sci J Iran Blood Transfus Organ 2016, 13(2): 122-129 | Back to browse issues page

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Motovali-bashi M, Sajadpour Z, Ghasemi T. Genetic diversity of HindIIIG polymorphism in second intron IVSII-I Gγ gene and its association with HbF level in β-thalassemia and intermedia thalassemia in Isfahan province. Sci J Iran Blood Transfus Organ 2016; 13 (2) :122-129
URL: http://bloodjournal.ir/article-1-934-en.html
Genetic diversity of HindIIIG polymorphism in second intron IVSII-I Gγ gene and its association with HbF level in β-thalassemia and intermedia thalassemia in Isfahan province
M. Motovali-bashi * , Z. Sajadpour , T. Ghasemi
Keywords: Key words: beta-Thalassemia, Genetic Polymorphism, HBF, Thalassemia Intermedia
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Sci J Iran Blood Transfus Organ 2016; 13(2): 122-129
 
Original  Article
 
 

Genetic diversity of HindIIIG polymorphism
in second intron IVSII-I Gγ gene and its association
with HbF level in β-thalassemia and intermedia
thalassemia in Isfahan province
 
Motovali-Bashi M.1, Sajadpour Z.1, Ghasemi T.1
 
 
[1]Biology Department, Faculty of Sciences, University of Isfahan, Isfahan, Iran
 
 
Abstract
Background and Objectives
Beta thalassemia is an autosomal recessive disease. The synthesis of HbF in patients with β-thalassemia seems to ameliorate the severity of symptoms.
 
Materials and Methods
In this case control study, 150 β-thalassemia major patients, 34 thalassemia intermedia patients, and 50 healthy individuals as the control were studied. HindIIIG polymorphism in IVSII-I Gγ gene was determined using RFLP-PCR method. HbF levels with electrophoresis method were taken from clinical files. Then, the linkage disequilibrium of this polymorphism with XmnI polymorphism in 5' Gγ gene was determined by D' Power Marker software.
 
Results
After data analysis, an association was observed between the A allele and thalassemia intermedia. In the dominant effect of the A allele (comparison between AA+AC vs. CC), AA+AC genotypes associates with intermedia thalassemia (p = 0.014, OR = 9.30, CI(95%) =   1.14-75.9) but there is no association with major thalassemia (p = 0.1, OR = 1, CI(95%) =  0.41-1.19). The means of HbF levels in β-thalassemia major and thalassemia intermedia patients were 94.3 g/dl and 84.4 g/dl, respectively. High linkage disequilibrium was seen between the two polymorphisms.
 
Conclusions
It is concluded that A allele may act as a dominant allele and increase disease amelioration. It showed that A allele of HindIIIG polymorphism has a positive effect on HbF level. Furthermore, the A allele of HindIIIG  polymorphism is strongly correlated with T allele of XmII polymorphism in thalassemia intermedia patients and C allele of HindIIIG  polymorphism is strongly correlated with C allele of XmnI polymorphism in β-thalassemia major.
 
Key words: beta-Thalassemia, Genetic Polymorphism, HBF,  Thalassemia Intermedia
 
 
 
Received:   1  Feb 2015
Accepted: 20 Dec 2015
 
 

 

Correspondence: Motovali-Bashi M., PhD of Genetics. Associate Professor of Biology Department, Faculty of Sciences, University of Isfahan.
P.O.Box: 81746-73441, Isfahan, Iran. Tel: (+9831) 37932474; Fax: (+9831) 37932456
E-mail: mbashi@sci.ui.ac.ir
Type of Study: Research | Subject: Genetis
Published: 2016/06/15
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