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β地中海贫血特征背景下的非HFE型血色素沉着症:铁过载失调的病例研究

Non-HFE Hemochromatosis in the Context of β-Thalassemia Trait: A Case Study on Iron Overload Dysregulation.

作者信息

Jensen Kate, Hammer Andrew, Khatib Ahmad, Hazin Moustafa

机构信息

Medicine, Creighton University School of Medicine, St. Joseph's Hospital and Medical Center, Phoenix, USA.

Internal Medicine, Creighton University School of Medicine, St. Joseph's Hospital and Medical Center, Phoenix, USA.

出版信息

Cureus. 2024 Nov 25;16(11):e74431. doi: 10.7759/cureus.74431. eCollection 2024 Nov.

DOI:10.7759/cureus.74431
PMID:39723309
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11669421/
Abstract

Thalassemia and hemochromatosis are two distinct conditions that involve dysregulation of iron metabolism, though their origin, clinical presentations, and treatments differ. This case represents a patient with incidentally discovered microcytic anemia due to β-thalassemia trait and non- hemochromatosis. It discusses the potential synergistic effect of these two diseases on iron overload and highlights the need for further testing to determine hereditary versus secondary causes of hemochromatosis. In addition, this case study also offers insight into the management of these conditions with somewhat conflicting treatments. In this case, the patient was advised to avoid phlebotomies so as not to worsen the anemia and was referred to hepatology.

摘要

地中海贫血和血色素沉着症是两种不同的病症,它们都涉及铁代谢失调,尽管其起源、临床表现和治疗方法有所不同。本病例介绍了一名因β地中海贫血特征和非血色素沉着症而偶然发现小细胞性贫血的患者。它讨论了这两种疾病对铁过载的潜在协同作用,并强调需要进一步检测以确定血色素沉着症的遗传原因与继发原因。此外,本病例研究还深入探讨了这些病症在治疗上存在一定冲突时的管理方法。在该病例中,建议患者避免进行静脉切开术以免加重贫血,并将其转诊至肝病科。

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1
Non-HFE Hemochromatosis in the Context of β-Thalassemia Trait: A Case Study on Iron Overload Dysregulation.β地中海贫血特征背景下的非HFE型血色素沉着症:铁过载失调的病例研究
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本文引用的文献

1
Secondary Iron Overload and the Liver: A Comprehensive Review.继发性铁过载与肝脏:综述
J Clin Transl Hepatol. 2023 Aug 28;11(4):932-941. doi: 10.14218/JCTH.2022.00420. Epub 2023 Feb 1.
2
Primary Non-HFE Hemochromatosis: A Review.原发性非HFE型血色素沉着症综述
J Clin Transl Hepatol. 2023 Aug 28;11(4):925-931. doi: 10.14218/JCTH.2022.00373. Epub 2023 Feb 2.
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Hemochromatosis classification: update and recommendations by the BIOIRON Society.血色病分类:BIOIRON 学会的更新和建议。
Blood. 2022 May 19;139(20):3018-3029. doi: 10.1182/blood.2021011338.
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Regulation of Iron Homeostasis and Related Diseases.铁稳态调节与相关疾病。
Mediators Inflamm. 2020 May 2;2020:6062094. doi: 10.1155/2020/6062094. eCollection 2020.
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Pathophysiology and treatment of patients with beta-thalassemia - an update.β地中海贫血患者的病理生理学与治疗——最新进展
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Non-Transfusion-Dependent Thalassemia: An Update on Complications and Management.非输血依赖型地中海贫血:并发症与治疗的最新进展。
Int J Mol Sci. 2018 Jan 8;19(1):182. doi: 10.3390/ijms19010182.
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Non-HFE hemochromatosis.非HFE型血色素沉着症
Rev Bras Hematol Hemoter. 2012;34(4):311-6. doi: 10.5581/1516-8484.20120079.
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Iron overload in non-transfusion-dependent thalassemia: a clinical perspective.非输血依赖型地中海贫血中的铁过载:临床视角。
Blood Rev. 2012 Apr;26 Suppl 1:S16-9. doi: 10.1016/S0268-960X(12)70006-1.
9
Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases.血色素沉着症的诊断与管理:美国肝病研究协会2011年实践指南
Hepatology. 2011 Jul;54(1):328-43. doi: 10.1002/hep.24330.
10
Hepcidin and Hfe in iron overload in beta-thalassemia.β-地中海贫血中铁过载中的铁调素和 HFE。
Ann N Y Acad Sci. 2010 Aug;1202:221-5. doi: 10.1111/j.1749-6632.2010.05595.x.