Association Between Serum Ferritin Level and Gene Mutations in Patients with Thalassemia Major and Intermediate

Background: Beta-thalassemia is one of the most important health problems worldwide. Identifying common mutations as well as the relationship between serum ferritin level and gene mutations in patients with intermediate and major thalassemia can be helpful in preventive programs. Objectives: The purpose of this study was to assess the association between serum ferritin level and gene mutations in patients with intermediate and major thalassemia. Methods: This descriptive cross-sectional study was done using patients’ medical records available in the hospital archives, and data of 132 patients with mutated genes referred to Ahvaz Shafa hospital from 2012-2017 were evaluated. In addition to determining the frequency of different gene mutations, the relationship between different gene mutations and serum ferritin levels, as well as hemoglobin levels before the first blood transfusion and the age of the patients (month) before the first blood transfusion, were investigated. Results: There was no significant relationship between mutated genes and serum ferritin levels (P = 0.2). There was a significant difference between the types of gene mutations and the levels of hemoglobin before the first blood transfusion (P = 0.01). There was no significant difference between the types of gene mutations and the age of the patients before the first blood transfusion (P = 0.4). Conclusions: There was no association between the types of mutations and serum ferritin levels as an indicator of disease severity. Patients with hemoglobin levels of 6 to 7 mg/dl were found with a higher likelihood of receiving a blood transfusion, with a higher percentage having the IVSII-I gene mutation, but given that many mutations were random and we just had one or two patients with these mutations, it cannot be used as an indicator for disease severity. We need to conduct studies with a larger sample size to be used as an indicator for disease severity. Since the influence of the other accompanying genes and polymorphism plays an important role in the clinical manifestations of genetic diseases, it can be the reason for some negative results.