铁稳态和遗传性铁过载的诊断：第56届美国血液学会年会报道

Iron homeostasis and diagnosis of hereditary iron overload： reports from the 56th American Society of Hematology annual meeting

介绍第56届美国血液学会（ASH）年会有关铁稳态和遗传性铁过载的诊断。铁元素分布广泛，是很多器官维持正常功能的重要金属元素之一。20世纪90年代末以来，伴随着铁过载、铁缺乏和铁异常分布相关基因突变的研究，人们更加了解了人体的铁稳态。2014年ASH会议报告主要阐述了人体铁元素的循环、铁稳态的保持和铁过载产生的原因，并提出遗传性铁过载的诊断思路。

The research progresses of iron homeostasis and the diagnosis of hereditary iron overload in the 56th American Society of Hematology （ASH） annual meetings were reviewed. Over the last 2 decades, the discovery of mutations in genes leading to hereditary disorders of iron overload, iron deficiency, and iron maldistribution had accelerated our understanding of human iron homeostasis. This article provided an updated overview of the human iron cycle, regulation of iron homeostasis, how perturbations in these homeostatic mechanisms led to iron overload disease and strategies for the diagnosis of hereditary iron overload.