Department of Hematology and Oncology, Shenzhen Children's Hospital, Yitian Road No. 7019, Futian, Shenzhen, 518038, Guangdong, China.
BMC Pediatr. 2019 Oct 23;19(1):375. doi: 10.1186/s12887-019-1744-8.
In young children, β-thalassemia major (β-TM) is associated with potentially severe clinical characteristics, including poor growth, feeding difficulties, hepatosplenomegaly, bone metabolic disorders, and skeletal abnormalities.
In this study, we reviewed the demographic and clinical characteristics (e.g., age, sex, duration of blood transfusion and chelating therapy, and vitamin supplementation) and serum biomarker levels (e.g., iron accumulation, bone metabolism, liver, kidney, and thyroid function markers) of 32 patients that received regular blood transfusion at a single center in southern China with the aim of stratifying the risk of severe complications such as osteopenia, endocrinopathies, and multi-organ failures.
Although all patients exhibited moderately to strongly elevated serum ferritin levels, this biomarker was significantly higher in children older than ≥5 years, compared to younger children (*p < 0.05, 1512 ± 192.6 vs. 2337 ± 299.8 ng/ml, Mann-Whitney U test). Older children had a significantly lower 25-hydroxy vitamin D3 (25(OH)D) level, compared to younger children (**p < 0.01, 34.25 ± 11.06 vs. 23.05 ± 9.95 ng/ml, Mann-Whitney U test). No age-related differences were observed in serum calcium, phosphorus, and PTH levels. Regarding liver function, the serum alanine aminotransferase (ALT) level was significantly increased in children older than ≥5 years, compared to younger children (*p < 0.05, 19.17 ± 2.44 vs. 43.45 ± 9.82I U/ml, Mann-Whitney U test). However, no age-related differences were observed in the serum levels of other liver or kidney and thyroid biomarkers.
Our results suggest that in older children, hepatic iron overload may be associated with a low serum concentration of 25(OH)D, an indicator of vitamin D deficiency and altered bone metabolism. Iron accumulation may also be associated with a higher concentration of ALT, a sensitive marker of liver malfunction. These findings may provide important clinical indications of the need for intervention to prevent severe complications in children with β thalassemia.
在年幼的患儿中，β-地中海贫血（β-TM）与严重的临床特征有关，包括生长不良、喂养困难、肝脾肿大、骨代谢紊乱和骨骼异常。
本研究回顾性分析了 32 例在华南地区单一中心接受规律输血的患儿的人口统计学和临床特征（如年龄、性别、输血和螯合治疗持续时间以及维生素补充情况）和血清生物标志物水平（如铁蓄积、骨代谢、肝、肾和甲状腺功能标志物），旨在对骨质疏松症、内分泌疾病和多器官衰竭等严重并发症的风险进行分层。
尽管所有患儿的血清铁蛋白水平均明显升高，但年龄较大的患儿（≥5 岁）显著高于年龄较小的患儿（*p<0.05，1512±192.6 vs. 2337±299.8ng/ml，Mann-Whitney U 检验）。年龄较大的患儿 25-羟维生素 D3（25(OH)D）水平明显低于年龄较小的患儿（**p<0.01，34.25±11.06 vs. 23.05±9.95ng/ml，Mann-Whitney U 检验）。血清钙、磷和甲状旁腺激素水平无年龄相关性差异。关于肝功能，丙氨酸氨基转移酶（ALT）水平在年龄较大的患儿中显著升高，高于年龄较小的患儿（*p<0.05，19.17±2.44 vs. 43.45±9.82I U/ml，Mann-Whitney U 检验）。然而，其他肝、肾和甲状腺生物标志物的血清水平无年龄相关性差异。
我们的结果表明，在年龄较大的患儿中，肝铁过载可能与血清 25(OH)D 浓度降低有关，后者是维生素 D 缺乏和骨代谢改变的指标。铁蓄积也可能与 ALT 浓度升高有关，后者是肝功能异常的敏感标志物。这些发现可能为需要干预以预防β地中海贫血患儿发生严重并发症提供重要的临床依据。
