• Evaluating the relationship between RANK rs1805034 SNP and the serum levels of RANK protein as a predictive marker of heart diseases in patients with Beta-Thalassemia Major Running Title: Heart Iron Overload in Thalassemia Major
  • Mojtaba shafiei,1 Leila Noorazar,2 Mohammadreza keramati,3,*
    1. Hematology and blood banking Mashhad university of medical science , Mashahd , Iran
    2. Hematology and blood banking Beheshti university of medical science , Tehran,Iran
    3. Cancer molecular pathology research center, faculty of medicine, Mashhad University of Medical Sciences, Mashhad, Iran.


  • Introduction: Background: Beta-thalassemia major is one of the well-known genetic disorders worldwide. Due to regular blood transfusions, iron deposition in the heart tissue results in cardiovascular diseases in beta-thalassemia patients. RANK/RANKL/OPG axis is a well-known signaling pathway that possesses a pivotal role in osteogenesis. The relationship between various single nucleotide polymorphisms (SNPs) of genes and cardiovascular diseases has been reported frequently. In this study, we surveyed the effect of RANK rs1805034 SNP and the RANK serum levels in patients with beta-thalassemia major on cardiovascular diseases.
  • Methods: Material & methods: This case-control study was performed on 80 patients with a beta-thalassemia major who referred to Mashhad Sarvar Clinic, Mashhad, Iran between Jun and November of 2018, and 80 sex- and age-matched healthy people as the control group. All patients were examined by two-dimensional echocardiography, M-Mode Doppler, and T2*MRI. The rs1805034 gene polymorphism of RANK gene was analyzed by the Sanger sequencing method. The serum levels of RANK were evaluated by ELISA. Left ventricular hypertrophy (LVH) and diastolic dysfunction (DD) were detected in 33 (41.25%) and 36 (45.0%) patients, respectively.
  • Results: Our results showed that patients with RANK rs1805034 SNP were not at high risk for LVH and diastolic dysfunction. No significant association between this SNP, LVH, and DD was observed. The serum levels of RANK were not associated with LVH, DD, and T2*MRI indexes in these patients.
  • Conclusion: In general, we did not find any significant correlation between RANK rs1805034 SNP and cardiovascular diseases in beta-thalassemia major patients.
  • Keywords: RANK, SNP, T2*MRI, Left ventricular hypertrophy, Thalassemia Major