Zhang Siqi, Zhao Wen, Sun Longwei, Liang Guohua, Wang Xiaodong, Zeng Hongwu
Department of Radiology and Nuclear Medicine, Xuanwu Hospital Capital Medical University, Beijing, 100053, China.
Department of Radiology, Shenzhen Children's Hospital, Shantou University Medical College, 7019 Yitian Road, Futian District, Shenzhen, 518038, China.
BMC Med Imaging. 2025 Jan 30;25(1):31. doi: 10.1186/s12880-025-01567-7.
Beta thalassemia major (β-TM) is a severe genetic anemia with considerable phenotypic heterogeneity. This study investigated whether genotype correlates with distinct myocardial iron overload patterns, assessed by cardiovascular magnetic resonance (CMR) T2* values.
CMR data for cardiac iron deposition evaluation, which recruited pediatric participants between January 2021 and December 2024, were analyzed with CVI42. The patients were classified into three genetic subgroups of β/β, β/β, and β/β based on their genetic outcomes. The CMR results classified patients into normal myocardial T2* value and myocardial iron overload groups. Qualitative and quantitative factors were subsequently compared by groups using comparative statistics.
The study included 145 pediatric β-TM patients, with 24 (17%) exhibiting cardiac iron deposition based on CMR T2* values. There were significant differences in iron chelation treatment strategies across genotypes, with the β/β genotype accounting for 54% (13/24) of patients in the cardiac iron deposition group. Regardless of genotype, the mid-inferolateral segment consistently showed the lowest CMR T2* values and the highest prevalence of iron deposition.
The risk of cardiac iron deposition increases as age progresses, and the mid-inferolateral segment is more susceptible to iron accumulation. The β/β genotype is more likely to suffer from cardiac iron overload, emphasizing the need for closer clinical monitoring and regular cardiac MRI evaluations.
重型β地中海贫血（β-TM）是一种严重的遗传性贫血，具有显著的表型异质性。本研究调查了基因型是否与通过心血管磁共振（CMR）T2*值评估的不同心肌铁过载模式相关。
使用CVI42分析2021年1月至2024年12月招募的儿科参与者的CMR数据，以评估心脏铁沉积。根据基因检测结果，将患者分为β/β、β/β和β/β三个基因亚组。CMR结果将患者分为心肌T2*值正常组和心肌铁过载组。随后使用比较统计方法对定性和定量因素进行组间比较。
该研究纳入了145例儿科β-TM患者，根据CMR T2值，其中24例（17%）表现出心脏铁沉积。不同基因型的铁螯合治疗策略存在显著差异，β/β基因型占心脏铁沉积组患者的54%（13/24）。无论基因型如何，中-下外侧段的CMR T2值始终最低，铁沉积患病率最高。
心脏铁沉积的风险随年龄增长而增加，中-下外侧段更容易发生铁蓄积。β/β基因型更易出现心脏铁过载，强调需要更密切的临床监测和定期进行心脏MRI评估。
