Volume 19, Issue 4 (winter 2022)
Sci J Iran Blood Transfus Organ 2022, 19(4): 321-328 |
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Yazdi M, Azarkeivan A, Ranjbar Kermani F, Shahabi M. The role of rs10421768, rs66868858 and 8101606 polymorphisms in hepcidin gene and iron overload in β-thalassemia patients. Sci J Iran Blood Transfus Organ 2022; 19 (4) :321-328
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| Abstract (HTML) (935 Views)
The role of rs10421768, rs66868858 and 8101606 polymorphisms in hepcidin gene and iron overload
in β-thalassemia patients
Yazdi M.1, Azarkeivan A.1, Ranjbar Kermani F.1, Shahabi M.1
1Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Abstract
Background and Objectives
Patients with β-thalassemia major are dependent on regular blood transfusion. Iron overload is the main complication of transfusion which damages vital organs. Hepcidin, a peptide hormone, is the key element of body iron hemostasis. Single nucleotide polymorphisms (SNPs) within the hepcidin gene alter its function and thereby iron status. The aim of this study was to determine the association of three SNPs of rs10421768, rs8101606 and rs66868858 with iron overload in thalassemia patients.
Materials and Methods
In this cross-sectional study, one hundred thalassemia patients were recruited. Patient clinical and laboratory data including serum ferritin, liver and heart iron deposition were collected from their files. SNPs genotypes were determined by high resolution melt curve analysis. Association between genotypes and iron overload markers was estimated by chi-square test considering p < 0.05 as statistically significant.
Results
Based on serum ferritin > 1000 ng/mL, 72% of patients were iron overloaded and 33% and 63% had abnormal heart and liver iron, respectively. Statistical analysis revealed no relation between SNPs genotype and iron overload.
Conclusions
Although we could not find any signification relation, it is probable that the effect of these polymorphisms on iron overload applied through a specific haplotype consisting of several SNPs.
Key words: beta-Thalassemia, Hepcidin, Iron Overload, Polymorphism
Received: 28 Dec 2021
Accepted: 19 Jul 2022
Correspondence: Shahabi M., PhD of Biological Products. Assistant professor of Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine.
P.O.Box: 14665 -1157, Tehran, Iran. Tel: (+9821) 88601558; Fax: (+9821) 88601542
E -mail: m.shahabi@tmi.ac.ir
Full-Text: (544 Views)
References:
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2010; 11(1): 110 - Andreani M, Radio FC, Testi M, De Bernardo C, Troiano M, Majore S, et al. Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major. Haematologica 2009; 94(9): 1293-6.
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- Zarghamian P, Azarkeivan A, Arabkhazaeli A, Mardani A, Shahabi M. Hepcidin gene polymorphisms and iron overload in β-thalassemia major patients refractory to iron chelating therapy. BMC Med Genet 2020; 21(1): 75.
- Ayatollahi H, Mousavi Nezhad SF, Talebpour A, Badiei Z, Nezami H. Relation of hepcidin gene expression in blood mononuclear cells with iron overload severity among β-thalassemia major patients. Mol Biol Rep 2020; 47(12): 9353-9.
- Altès A, Bach V, Ruiz A, Esteve A, Felez J, Remacha AF, et al. Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Ann Hematol 2009; 88(10): 951-5.
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Sci J Iran Blood Transfus Organ 2022;19 (4): 321-328 |
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Original Article
|
The role of rs10421768, rs66868858 and 8101606 polymorphisms in hepcidin gene and iron overload
in β-thalassemia patients
Yazdi M.1, Azarkeivan A.1, Ranjbar Kermani F.1, Shahabi M.1
1Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Abstract
Background and Objectives
Patients with β-thalassemia major are dependent on regular blood transfusion. Iron overload is the main complication of transfusion which damages vital organs. Hepcidin, a peptide hormone, is the key element of body iron hemostasis. Single nucleotide polymorphisms (SNPs) within the hepcidin gene alter its function and thereby iron status. The aim of this study was to determine the association of three SNPs of rs10421768, rs8101606 and rs66868858 with iron overload in thalassemia patients.
Materials and Methods
In this cross-sectional study, one hundred thalassemia patients were recruited. Patient clinical and laboratory data including serum ferritin, liver and heart iron deposition were collected from their files. SNPs genotypes were determined by high resolution melt curve analysis. Association between genotypes and iron overload markers was estimated by chi-square test considering p < 0.05 as statistically significant.
Results
Based on serum ferritin > 1000 ng/mL, 72% of patients were iron overloaded and 33% and 63% had abnormal heart and liver iron, respectively. Statistical analysis revealed no relation between SNPs genotype and iron overload.
Conclusions
Although we could not find any signification relation, it is probable that the effect of these polymorphisms on iron overload applied through a specific haplotype consisting of several SNPs.
Key words: beta-Thalassemia, Hepcidin, Iron Overload, Polymorphism
Received: 28 Dec 2021
Accepted: 19 Jul 2022
Correspondence: Shahabi M., PhD of Biological Products. Assistant professor of Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine.
P.O.Box: 14665 -1157, Tehran, Iran. Tel: (+9821) 88601558; Fax: (+9821) 88601542
E -mail: m.shahabi@tmi.ac.ir
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