Transferrin Receptor 1-rs3817672 Single Nucleotide Polymorphism and Iron Deficiency Anemia in Chronic Liver Disease

Authors

Sally S. Mandour, Clinical Pathology Department, National Liver Institute, Menoufia University, shibinelkom, Menoufia ,EgyptFollow
Olfat M. Hendy, Clinical Pathology Department, National Liver Institute, Menoufia University, shibinelkom, Menoufia ,Egypt
Laila S. Dorgham, Epidemiology and Preventive Medicine Department, National Liver Institute ,Menoufia University, shibinelkom, Menoufia, Egypt
Eman A. Mahmoud, Hepatology and Gastrology Department, National Liver Institute, Menoufia University, shibinelkom, Menoufia, Egypt
Fatma A. Khalaf, Clinical Biochemistry Department, National Liver Institute,Menoufia University, shibinelkom , Menoufia, Egypt
Asmaa A. Abd-EL Gawad, Clinical Pathology Department, National Liver Institute, Menoufia University, shibinelkom, Menoufia ,Egypt
Isis S. Bedira, Clinical Pathology Department, National Liver Institute, Menoufia University, shibinelkom, Menoufia ,Egypt

Subject Area

Pathology

Article Type

Original Study

Abstract

Objectives: to investigate the potential association between transferrin receptor gene polymorphism (TfR-1 rs3817672) and Iron deficiency anemia in Liver cirrhosis patients.Background: Iron deficiency anemia (IDA) remains a global health concern, affecting a substantial portion of the population; patients suffering from liver cirrhosis (LC) are frequently complicated with IDA owing to multifactorial etiologies. Objective: This study investigated the potential association between transferrin receptor gene polymorphism (TfR-1 rs3817672) and iron deficiency anemia in cirrhotic patients. Patients and methods: The study included 100 participants, 40 LC patients with IDA, 30 LC patients without IDA, and 30 healthy controls. Clinical, radiological, and laboratory investigations were done and TfR-1 rs3817672 were genotyped by real-time PCR. Results: Heterozygous mutant CT genotype was the most frequent genotype in LC with IDA and control groups compared to LC without IDA group. The combined CT + TT genotypes were more frequent (82.5%) in IDA cases than in other patient groups (p=0.015*). The T alleles were higher (56.3%) in LC with the IDA group than the non- IDA group (35%) with a p value of 0.022. Conclusion: There was a significant association between TfR1-gene polymorphism and presence of IDA among cirrhotic patients, which may highlights the importance of genetic predisposition in of iron down regulation and pathogenesis of ID in patients with liver cirrhosis.

Recommended Citation

Mandour, Sally S.; Hendy, Olfat M.; Dorgham, Laila S.; Mahmoud, Eman A.; Khalaf, Fatma A.; Gawad, Asmaa A. Abd-EL; and Bedira, Isis S. (2024) "Transferrin Receptor 1-rs3817672 Single Nucleotide Polymorphism and Iron Deficiency Anemia in Chronic Liver Disease," Menoufia Medical Journal: Vol. 38: Iss. 1, Article 9.
DOI: https://doi.org/10.59204/2314-6788.3321