[铁难治性缺铁性贫血（IRIDA）患者临床特征及基因突变的鉴定与表征]
[Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].
作者信息
Xiong Yuanyuan, Yang Wenrui, Li Yang, Peng Guangxin, Li Yuan, Fan Huihui, Ye Lei, Song Lin, Zhao Xin, Li Jianping, Jing Liping, Zhang Li, Zhou Kang, Xu Yidan, Zhang Fengkui
机构信息
Institute of Hematology & Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2014 Jun;35(6):486-90. doi: 10.3760/cma.j.issn.0253-2727.2014.06.002.
OBJECTIVE
To report the clinical data of a case of iron-refractory iron deficiency anemia (IRIDA), so as to improve the understanding of IRIDA.
METHODS
The IRIDA patient's hematological characteristics were summarized and analyzed. The hepcidin levels were tested by ELISA kit. The TMPRSS6 gene was amplified by PCR reaction and its mutation was analyzed by sequencing. The effect of TMPRSS6 gene mutation on TMPRSS6 protein tertiary structure was predicted by Swiss-Model.
RESULTS
The patient was characterized by typical microcytic hypochromic anemia, low transferrin saturation, more reduction of intracellular iron than exocellular iron. The plasma hepcidin level was 213.77 μg/L which was significantly higher than that of IDA patients [5.19(3.31-12.02) μg/L]. The patient also carried a homozygous missense mutation of K253E in exon 7 of TMPRSS6.
CONCLUSION
In children and younger IDA patients with no reason for iron deficiency but unresponsiveness to routine iron treatment, the diagnosis of IRIDA needs to be considered. Serum hepcidin level and TMPRSS6 gene mutation should be detected.
目的
报告1例铁难治性缺铁性贫血（IRIDA）的临床资料，以提高对IRIDA的认识。
方法
总结分析IRIDA患者的血液学特征。采用ELISA试剂盒检测铁调素水平。通过PCR反应扩增TMPRSS6基因并测序分析其突变情况。利用Swiss-Model预测TMPRSS6基因突变对TMPRSS6蛋白三级结构的影响。
结果
该患者表现为典型的小细胞低色素性贫血、转铁蛋白饱和度降低，细胞内铁比细胞外铁减少更明显。血浆铁调素水平为213.77μg/L，显著高于缺铁性贫血（IDA）患者[5.19(3.31 - 12.02)μg/L]。该患者还携带TMPRSS6基因第7外显子K253E纯合错义突变。
结论
对于无缺铁原因但对常规铁治疗无反应的儿童及年轻IDA患者，需考虑IRIDA的诊断。应检测血清铁调素水平及TMPRSS6基因突变。
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