GENETIC DIVERSITY OF HINDIIIG POLYMORPHISM IN SECOND INTRON IVSII-I GYGENE AND ITS ASSOCIATION WITH HBF LEVEL IN β-THALASSEMIA AND INTERMEDIA THALASSEMIA IN ISFAHAN PROVINCE

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MOTOVALI BASHI M.; SAJADPOUR Z.; GHASEMI T.

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Journal: The Scientific Journal of Iranian Blood Transfusion Year:2016 | Volume:13 | Issue:2 Page(s): 122-129

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Title

GENETIC DIVERSITY OF HINDIIIG POLYMORPHISM IN SECOND INTRON IVSII-I GYGENE AND ITS ASSOCIATION WITH HBF LEVEL IN β-THALASSEMIA AND INTERMEDIA THALASSEMIA IN ISFAHAN PROVINCE

Author(s)

MOTOVALI BASHI M. | SAJADPOUR Z. | GHASEMI T. | Issue Writer Certificate

Keywords

BETA-THALASSEMIAQ3

GENETIC POLYMORPHISMQ2

HBFQ2

THALASSEMIA INTERMEDIAQ2

Abstract

Background and Objectives Beta thalassemia is an autosomal recessive disease. The synthesis of HBF in patients with b-thalassemia seems to ameliorate the severity of symptoms.Materials and Methods In this case control study, 150 b-thalassemia major patients, 34 THALASSEMIA INTERMEDIA patients, and 50 healthy individuals as the control were studied. HindIIIG polymorphism in IVSII-IGγ 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' G γ 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 b-thalassemia major.

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References

ROLE OF XMNIγG POLYMORPHISM IN HYDROXYUREA TREATMENT AND FETAL HEMOGLOBIN LEVEL AT ISFAHANIAN INTERMEDIATE β-THALASSEMIA PATIENTS

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APA: Copy

MOTOVALI BASHI, M., SAJADPOUR, Z., & GHASEMI, T.. (2016). GENETIC DIVERSITY OF HINDIIIG POLYMORPHISM IN SECOND INTRON IVSII-I GYGENE AND ITS ASSOCIATION WITH HBF LEVEL IN β-THALASSEMIA AND INTERMEDIA THALASSEMIA IN ISFAHAN PROVINCE. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), 13(2), 122-129. SID. https://sid.ir/paper/78688/en

Vancouver: Copy

MOTOVALI BASHI M., SAJADPOUR Z., GHASEMI T.. GENETIC DIVERSITY OF HINDIIIG POLYMORPHISM IN SECOND INTRON IVSII-I GYGENE AND ITS ASSOCIATION WITH HBF LEVEL IN β-THALASSEMIA AND INTERMEDIA THALASSEMIA IN ISFAHAN PROVINCE. THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON)[Internet]. 2016;13(2):122-129. Available from: https://sid.ir/paper/78688/en

IEEE: Copy

M. MOTOVALI BASHI, Z. SAJADPOUR, and T. GHASEMI, “GENETIC DIVERSITY OF HINDIIIG POLYMORPHISM IN SECOND INTRON IVSII-I GYGENE AND ITS ASSOCIATION WITH HBF LEVEL IN β-THALASSEMIA AND INTERMEDIA THALASSEMIA IN ISFAHAN PROVINCE,” THE SCIENTIFIC JOURNAL OF IRANIAN BLOOD TRANSFUSION ORGANIZATION (KHOON), vol. 13, no. 2, pp. 122–129, 2016, [Online]. Available: https://sid.ir/paper/78688/en

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