Endocrine Abstracts

JOINT674

Background: Thalassemia Major (TM) and Thalassemia Intermedia (TI) are distinct forms of beta-thalassemia, characterized by differences in transfusion dependence and iron overload patterns. Non-invasive imaging techniques, including T2* MRI and FerriScan (R2 MRI), have advanced the management of iron burden. However, differences in their diagnostic efficacy and their implications on growth, puberty, and endocrine functions in TM and TI remain underexplored.

Objective: This study aims to evaluate the differences in MRI (T2*) and FerriScan findings between TM and TI and their correlation with growth retardation, delayed puberty, and endocrine dysfunction.

Methods: A review of studies comparing MRI and FerriScan findings in TM and TI was conducted. Key parameters analyzed include liver iron concentration (LIC), cardiac iron overload, and extramedullary manifestations. Findings were correlated with growth patterns, pubertal development, and endocrine outcomes, including hypogonadism and short stature.

Results: • Liver Iron Concentration (LIC): FerriScan was more sensitive in detecting LIC in both TM and TI, particularly at higher iron burdens. T2* MRI tended to underestimate LIC, especially in TM patients with severe iron overload. In TI, FerriScan provided superior detection of moderate LIC, highlighting differences in iron deposition patterns.

• Cardiac Iron Overload: T2* MRI identified higher myocardial iron deposition in TM than in TI, where cardiac involvement was less frequent but associated with high-output heart states.

• Growth Retardation: Chronic iron overload and anemia in TM led to significant growth delays. In TI, the lower frequency of transfusions and delayed recognition of iron overload further exacerbated growth impairment.

• Pubertal Delays: Hypogonadism and delayed puberty were prevalent in both conditions, with higher severity in TM due to heavier transfusion burdens and iron toxicity. In TI, unrecognized iron overload compounded endocrine dysfunction.

• Endocrine Dysfunction: Hypogonadotropic hypogonadism, diabetes, and hypothyroidism were frequently observed in TM patients with severe iron burden. In TI, iron-related endocrine dysfunction occurred but was often overlooked due to milder transfusion dependence.

Conclusion: FerriScan demonstrated greater accuracy in measuring LIC, particularly in TM patients with high iron burdens and TI patients with moderate overload. MRI findings, when combined with FerriScan, provide critical insights into iron-related complications, enabling better management of growth, puberty, and endocrine outcomes. Regular imaging-guided chelation improves growth and endocrine function, but the implementation remains suboptimal in TI compared to TM. This underscores the need for tailored iron monitoring strategies for both conditions.

Keywords: Thalassemia Major, Thalassemia Intermedia, MRI, FerriScan, Iron Overload, Growth, Endocrine Dysfunction, Puberty.