Document Type : Research Paper

Authors

• Maryam Zare ¹
• Faezeh Momeni ²
• masoud Houshmand ³

¹ Department of Biology, Faculty of Sciences, Payame Noor University

² Department of Biology, Faculty of Sciences, Payame Noor University, Shahre Rey, Iran

³ Department of Medical Biotechnology, National institute of genetic Engineering and Biotechnology

Abstract

The anemia which is recognized by a decrease in hemoglobin and red blood cells is a common global health problem. Severe or prolonged iron deficiency can lead to iron deficiency anemia (IDA), the main cause of Iron deficiency. Apart from the lack of nutrients, infections and inflammatory diseases genetic factors can also be involved in IDA. TMPRSS6 gene mutations and polymorphism can result in iron deficiency anemia (IDA) and cause an increased iron-regulatory hormone and hepcidin.

This study aimed to investigate single nucleotide polymorphisms rs2111833 and rs2235324 in the TMPRSS6 gene for the first time in Iranian patients with IDA and healthy individuals.

To do this study, 200 blood samples were collected from IDA patients. Then DNA was extracted, and Tetra-Arms PCR was performed using specific primers for each variant. The PCR products were electrophoresed and sequenced, and the results were analyzed. According to the results, there were three heterozygous (GA), wild homozygous (GG) and mutated homozygous (AA) genotypes for rs2111833 and this polymorphism was significantly associated with iron deficiency anemia. Only the wild-type homozygous (TT) genotype was observed for rs2235324. These results show that rs2111833 polymorphism is significantly correlated with iron deficiency anemia and seems to play a major role in iron deficiency anemia risk in Iranian patients. However, the rs2235324 variant was not significantly associated with this disease.

Keywords

• Iron deficiency anemia
• Polymorphism
• TMPRSS6 gene
• rs2111833
• rs223532

Main Subjects

• Genetics