Cardiac Iron Overload Assessment in Thalassemia Major

Thalassaemia major is characterised by chronic transfusion dependence, leading to systemic iron accumulation. Excess iron deposits in the myocardium precipitate a spectrum of cardiac dysfunctions, from subtle alterations in contractile performance to overt heart failure, and remain the leading cause of mortality in this patient group. Non-invasive imaging has transformed the assessment of myocardial siderosis, enabling earlier detection and monitoring of chelation efficacy. Cardiac magnetic resonance imaging (CMR) T2* relaxometry has emerged as the clinical gold standard, offering reproducible quantification of myocardial iron loading by measuring the decay of signal intensity across increasing echo times. Pixelwise T2* mapping provides spatially resolved iron distribution, guiding tailored intensification of chelation regimens and improving long-term survival. Complementary techniques such as T1 mapping and advanced echocardiography have been explored to address limitations of T2*, including susceptibility to artefact and insensitivity to very early iron deposition. These modalities, combined with advances in image analysis and machine learning, are enriching the clinician’s toolkit for risk stratification, longitudinal follow-up and global standardisation of care.

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Technical terms

Cardiac magnetic resonance imaging (CMR): A non-invasive imaging modality that uses magnetic fields and radiofrequency pulses to generate detailed images and quantitative tissue maps of the heart.

T2* mapping: A CMR technique that measures the rate of signal decay over multiple echo times; shortened T2* values indicate increased iron deposition in myocardial tissue.

T1 mapping: A CMR method that quantifies longitudinal relaxation times on a pixelwise basis; reductions in native (non-contrast) T1 may reflect iron overload or other tissue changes.

Radiomic features: Quantitative descriptors of image texture, intensity and shape extracted from medical images, used to characterise tissue heterogeneity.

Left ventricular ejection fraction (LVEF): The percentage of blood ejected from the left ventricle during systole, commonly used as a global measure of cardiac pump function.

References

1. Left Ventricular Myocardial Dysfunction Evaluation in Thalassemia Patients Using Echocardiographic Radiomic Features and Machine Learning Algorithms. Journal of Imaging Informatics in Medicine (2023).
2. Cardiac T2* mapping: Techniques and clinical applications. Journal of Magnetic Resonance Imaging (2019).
3. Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. Journal of Cardiovascular Magnetic Resonance (2008).
4. Role of T1 mapping as a complementary tool to T2* for non-invasive cardiac iron overload assessment. PLOS ONE (2018).
5. Myocardial iron overload by cardiovascular magnetic resonance native segmental T1 mapping: a sensitive approach that correlates with cardiac complications. Journal of Cardiovascular Magnetic Resonance (2021).