Introduction: For patients with transfusion-dependent thalassemia (TDT), regular blood transfusions are a double-edged sword. While essential for survival, they lead to a life-threatening complication: iron overload. The human body lacks a natural mechanism to remove the excess iron from these transfusions, causing it to accumulate in vital organs, particularly the heart and liver. This can result in severe organ damage, heart failure, and is a primary cause of mortality in this patient population.

The cornerstone of management is iron chelation therapy; a treatment whose success critically depends on the accurate measurement of the body's iron burden. Historically, clinicians have relied on serum ferritin levels to guide this therapy. However, serum ferritin is an acute-phase reactant, meaning its levels can be falsely elevated by common conditions like infections or inflammation. This makes it an often unreliable marker, complicating treatment decisions and potentially jeopardizing patient safety.

To address this critical diagnostic gap, a novel technology, R2* Magnetic Resonance Imaging (R2* MRI), is emerging as a promising solution. We hypothesize that this non-invasive technique could revolutionize iron management. Unlike the indirect and often misleading serum ferritin test, R2* MRI offers the potential to directly and precisely quantify iron concentration within the heart and liver tissue. By providing a clear, reliable view of organ-specific iron loading, this breakthrough technology could allow clinicians to tailor chelation therapy with unprecedented accuracy, promising to significantly improve long-term outcomes for patients with TDT.

Objective: To study the liver iron concentration using R2 * MRI and its correlation with serum ferritin and other clinical haematological characteristics in patients with transfusion-dependent thalassemia

Methodology: This prospective observational study was conducted at the Haematology Outpatient Department (OPD) of the All India Institute of Medical Sciences (AIIMS) in Bhubaneswar, India. The study enrolled previously diagnosed cases of transfusion-dependent thalassemia (TDT) who presented for care between 2020 and 2022.

Upon enrolment, demographic profile, a detailed clinical history, and results from relevant baseline haematological investigations were collected. To establish a baseline for iron overload and confirm the specific hemoglobinopathy, initial levels of serum ferritin and a haemoglobin High-Performance Liquid Chromatography (HPLC) analysis were recorded for all patients.

For more advanced analysis, two key procedures were performed. First, blood samples were collected to identify the specific genetic mutations responsible for beta-thalassemia using the multiplex Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) technique. Second, to accurately quantify organ-specific iron burden, patients underwent a non-invasive R2* hepatic Magnetic Resonance Imaging (MRI) scan to precisely measure their Liver Iron Concentration (LIC).

All the collected data were then compiled for statistical evaluation using IBM SPSS Statistics, version 23. To assess the potential relationships between different clinical and laboratory values, the Spearman correlation test was employed. Other appropriate statistical tests were also utilized as required to thoroughly analyse the data.

Results: Fifty-three cases of TDT meeting the inclusion criteria were included. The median R2* value obtained from the liver MRI scan was 549.6(101.4-967.8) Hz, and the median liver iron concentration derived from the R2* value for assessing liver iron status was 130.74(29.09-225.5) micromole/g or 7.32(1.63-12.63) mg/g. Liver iron overload was present in 82% of the patients. No correlation was found between liver iron concentration (LIC) and serum ferritin and other phenotypic and genetic characteristics.

Conclusion:While serum ferritin levels are consistently elevated in patients with iron overload, they don't accurately reflect the true amount of iron in the liver. In contrast, R2* MRI is a reliable and effective method to precisely quantify and monitor the liver's iron burden, which is essential for preventing serious, iron-induced health complications

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2025
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