AUTHOR=Tan Siyu , Ning Xiaojing , Zhu Chunxia , Chen Guowei , Kong Rong , Huang Yugui , Tang Cheng , Liu Cunan , Peng Peng 

TITLE=MRI-T2* quantification of cardiac iron content correlates with extramedullary hematopoiesis and homozygous β0 genotypes in transfusion-dependent thalassemia

JOURNAL=Frontiers in Medicine

VOLUME=Volume 12 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2025.1627902

DOI=10.3389/fmed.2025.1627902

ISSN=2296-858X

ABSTRACT=AimThis study examined the correlation between cardiac iron content and extramedullary hematopoiesis (EMH) masses, and evaluated the predictive value of cardiac iron content for homozygous β0 genotypes in transfusion-dependent thalassemia (TDT) patients.MethodsThis prospective study enrolled 77 thalassemia patients from October 2022 to June 2024. MRI was used to quantify EMH mass number (NEMH) and maximum diameter (DEMH), as well as cardiac and liver T2* values via T2* mapping. Clinical data were collected from hospital records. Participants were grouped by transfusion dependence, NEMH, DEMH, and genotype. Multiple linear regression and receiver operating characteristic (ROC) analyses were applied to identify cardiac T2* predictors and the discriminative power of cardiac T2* for homozygous β0 genotypes in transfusion-dependent thalassemia (TDT) patients.ResultsOf 77 patients, 58 had TDT and 19 had NTDT. Among TDT patients, 42 were EMH (+) and 16 EMH (–). The EMH (+) group was subdivided by NEMH into 0 < NEMH < 10 (n = 13) and NEMH ≥ 10 (n = 29), and by the median DEMH into 0 < DEMH < 2.85 cm (n = 21) and DEMH ≥ 2.85 cm (n = 21). Genotyping was performed on 25 β-TDT patients, identifying 14 as homozygous β0 and 11 as heterozygous β0β+. The TDT patient group showed a significantly higher prevalence of EMH than the NTDT group (p = 0.001). In TDT patients, the NEMH ≥ 10 or DEMH ≥ 2.85 cm group had elevated cardiac T2* (p = 0.018; p = 0.014). DEMH ≥ 2.85 cm remained an independent predictor of cardiac T2* (p < 0.05). Homozygous β0 genotypes correlated with lower cardiac T2* (p = 0.009). Cardiac T2* predicted β0 genotype with AUC of 0.812 (95% CI: 0.613–0.993), sensitivity 85.7%, and specificity 81.8% at a cutoff of 37.45 ms.ConclusionEMH masses were highly prevalent in this TDT cohort. Larger EMH mass size—more so than greater number—was significantly associated with elevated cardiac T2* values. Furthermore, cardiac T2* serves as an effective non-invasive predictor of homozygous β0 genotypes in β-TDT patients.