Expression of the FAM132B Gene in Iranian Patients with Beta-Thalassemia

Fariba  Sarem; Azita  Azarkeivan; Ahmad  Mardani; Majid  Shahabi

doi:10.18502/ijhoscr.v19i4.19982

Fariba Sarem Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Azita Azarkeivan Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Ahmad Mardani Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran
Majid Shahabi Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine, Tehran, Iran

DOI: https://doi.org/10.18502/ijhoscr.v19i4.19982

Keywords: Beta-thalassemia; Gene expression; Erythroferrone (ERFE); FAM132B; Iron overload

Abstract

Background: Iron homeostasis is a complex process involving multiple factors. Erythroblasts secrete erythroferrone (ERFE), which affects hepcidin production, thereby enhancing iron uptake. This study aimed to investigate the expression of the ERFE-encoding FAM132B gene in Iranian patients with beta-thalassemia major (BTM) and beta-thalassemia intermedia (BTI).

Materials and Methods: A total of 40 BTM and BTI patients and 20 healthy blood donors as a control group were recruited. Total RNA was extracted from whole blood samples, and cDNA was synthesized. Gene expression was quantified using a SYBR Green-based real-time PCR (RT-PCR) assay. Data analysis was performed by the GraphPad Prism program using the one-way ANOVA test.

Results: The expression of the FAM132B gene was upregulated in BTI patients compared to BTM patients (p = 0.0151). Despite the higher mRNA fold change in BTI patients, no significant difference was observed in the FAM132B gene expression between beta-thalassemia patients (major and intermedia) and the control group.

Conclusion: The expression of the FAM132B gene was different between beta-thalassemia major and intermedia patients. Further studies should be conducted to better elucidate the role of erythroferrone as a potential therapeutic target in patients with beta-thalassemia.