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Normalizing hepcidin predicts mutation status in patients with chronic iron deficiency.使铁调素正常化可预测慢性缺铁患者的突变状态。
Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12.
2
[Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].[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]
Zhonghua Xue Ye Xue Za Zhi. 2014 Jun;35(6):486-90. doi: 10.3760/cma.j.issn.0253-2727.2014.06.002.
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Associations of Common Variants in and Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease.与终末期肾病患者铁调素 25 和铁状态参数相关的 和 基因常见变异体的关联。
Dis Markers. 2019 Mar 7;2019:4864370. doi: 10.1155/2019/4864370. eCollection 2019.
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Transferrin Saturation/Hepcidin Ratio Discriminates -Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia.转铁蛋白饱和度/铁调素比值可区分与炎症相关的铁难治性缺铁性贫血和多病因缺铁性贫血患者。
Int J Mol Sci. 2022 Feb 8;23(3):1917. doi: 10.3390/ijms23031917.
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The role of Matriptase-2 during the early postnatal development in humans.Matriptase-2在人类出生后早期发育过程中的作用。
Haematologica. 2016 Apr;101(4):e126-8. doi: 10.3324/haematol.2015.139808. Epub 2016 Jan 22.
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A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.TMPRSS6基因发生突变，该基因编码一种抑制铁调素生成的跨膜丝氨酸蛋白酶，与口服铁剂治疗无效的家族性缺铁性贫血有关。
Haematologica. 2008 Oct;93(10):1473-9. doi: 10.3324/haematol.13342. Epub 2008 Jul 4.
7
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.一名患有小细胞贫血和缺铁症的患者，其TMPRSS6基因存在两个无义突变。
Blood. 2008 Sep 1;112(5):2089-91. doi: 10.1182/blood-2008-05-154740. Epub 2008 Jul 2.
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The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.土耳其缺铁性贫血患者 TMPRSS6 基因突变与铁相关血液学参数的关系。
Gene. 2018 Oct 5;673:201-205. doi: 10.1016/j.gene.2018.06.055. Epub 2018 Jun 19.
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Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.人类 TMPRSS6 在缺铁性贫血中的多态性和突变。
Blood Cells Mol Dis. 2010 Jan 15;44(1):16-21. doi: 10.1016/j.bcmd.2009.09.001. Epub 2009 Oct 8.
10
Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.伴有两种新型跨膜丝氨酸蛋白酶6（TMPRSS6）突变的铁难治性缺铁性贫血（IRIDA）病例
Pediatr Hematol Oncol. 2016 Apr;33(3):226-32. doi: 10.3109/08880018.2016.1157229. Epub 2016 Apr 27.

引用本文的文献

1
Iron Deficiency Anemia.缺铁性贫血
Adv Exp Med Biol. 2025;1480:163-178. doi: 10.1007/978-3-031-92033-2_12.
2
How I treat iron-refractory iron deficiency anaemia-An expert opinion-based treatment guidance for children and adults.我如何治疗铁难治性缺铁性贫血——基于专家意见的儿童及成人治疗指南
Br J Haematol. 2025 Apr;206(4):1067-1076. doi: 10.1111/bjh.20030. Epub 2025 Feb 22.
3
Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia.缺铁和缺铁性贫血的诊断、治疗及预防建议。
Hemasphere. 2024 Jul 15;8(7):e108. doi: 10.1002/hem3.108. eCollection 2024 Jul.
4
Effects of Hypoxia and Inflammation on Hepcidin Concentration in Non-Anaemic COVID-19 Patients.缺氧和炎症对非贫血型新冠患者中铁调素浓度的影响
J Clin Med. 2024 May 29;13(11):3201. doi: 10.3390/jcm13113201.
5
The global prevalence and ethnic heterogeneity of iron-refractory iron deficiency anaemia.铁难治性缺铁性贫血的全球患病率和种族异质性。
Orphanet J Rare Dis. 2023 Jan 5;18(1):2. doi: 10.1186/s13023-022-02612-2.
6
Hepcidin as a Potential Biomarker for the Diagnosis of Anemia.铁调素作为诊断贫血的潜在生物标志物
Turk J Pharm Sci. 2022 Oct 31;19(5):603-609. doi: 10.4274/tjps.galenos.2021.29488.
7
Hepcidin and Iron in Health and Disease.《健康与疾病中的铁调素与铁》
Annu Rev Med. 2023 Jan 27;74:261-277. doi: 10.1146/annurev-med-043021-032816. Epub 2022 Jul 29.
8
Magnetic resonance venography to evaluate cerebral sinovenous thrombosis in infants receiving therapeutic hypothermia.磁共振静脉血管造影评估接受治疗性低体温的婴儿脑静脉窦血栓形成。
Pediatr Res. 2023 Mar;93(4):985-989. doi: 10.1038/s41390-022-02195-5. Epub 2022 Jul 19.
9
Transferrin Saturation/Hepcidin Ratio Discriminates -Related Iron Refractory Iron Deficiency Anemia from Patients with Multi-Causal Iron Deficiency Anemia.转铁蛋白饱和度/铁调素比值可区分与炎症相关的铁难治性缺铁性贫血和多病因缺铁性贫血患者。
Int J Mol Sci. 2022 Feb 8;23(3):1917. doi: 10.3390/ijms23031917.
10
Roxadustat Does Not Affect Platelet Production, Activation, and Thrombosis Formation.罗沙司他不会影响血小板的生成、激活和血栓形成。
Arterioscler Thromb Vasc Biol. 2021 Oct;41(10):2523-2537. doi: 10.1161/ATVBAHA.121.316495. Epub 2021 Aug 5.

本文引用的文献

1
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.铁难治性缺铁性贫血：一种并非总是铁难治性的异质性疾病。
Am J Hematol. 2016 Dec;91(12):E482-E490. doi: 10.1002/ajh.24561.
2
Hepcidin in the diagnosis of iron disorders.铁调素在铁代谢紊乱诊断中的应用
Blood. 2016 Jun 9;127(23):2809-13. doi: 10.1182/blood-2015-12-639112. Epub 2016 Apr 4.
3
Functional and clinical impact of novel TMPRSS6 variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.新型TMPRSS6变体在铁难治性缺铁性贫血患者中的功能和临床影响及基因型-表型研究
Hum Mutat. 2014 Nov;35(11):1321-9. doi: 10.1002/humu.22632. Epub 2014 Sep 10.
4
Immunoassay for human serum hepcidin.人血清铁调素免疫测定法。
Blood. 2008 Nov 15;112(10):4292-7. doi: 10.1182/blood-2008-02-139915. Epub 2008 Aug 8.
5
The serine protease TMPRSS6 is required to sense iron deficiency.丝氨酸蛋白酶TMPRSS6是感知缺铁所必需的。
Science. 2008 May 23;320(5879):1088-92. doi: 10.1126/science.1157121. Epub 2008 May 1.
6
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).TMPRSS6基因的突变会导致铁难治性缺铁性贫血（IRIDA）。
Nat Genet. 2008 May;40(5):569-71. doi: 10.1038/ng.130. Epub 2008 Apr 13.

Normalizing hepcidin predicts mutation status in patients with chronic iron deficiency.

作者信息

Heeney Matthew M, Guo Dongjing, De Falco Luigia, Campagna Dean R, Olbina Gordana, Kao Paige P-C, Schmitz-Abe Klaus, Rahimov Fedik, Gutschow Patrick, Westerman Keith, Ostland Vaughn, Jackson Tracy, Klaassen Robert J, Markianos Kyriacos, Finberg Karin E, Iolascon Achille, Westerman Mark, London Wendy B, Fleming Mark D

机构信息

Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA.

Dana-Farber Cancer Institute, Boston, MA.

出版信息

Blood. 2018 Jul 26;132(4):448-452. doi: 10.1182/blood-2017-03-773028. Epub 2018 Jun 12.

DOI:10.1182/blood-2017-03-773028
PMID:29895660
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6071554/
Abstract
摘要