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首页> 外文期刊>Blood: The Journal of the American Society of Hematology >Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease
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Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease

机译：血细胞症亚型的表型分析揭示了铁过载和临床疾病的严重程度的变化

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摘要

The clinical progression of HFE-related hereditary hemochromatosis (HH) and its phenotypic variability has been well studied. Less is known about the natural history of non-HFEHHcaused by mutations in the HJV, HAMP, or TFR2 genes. The purpose of this study was to compare the phenotypic and clinical presentations of hepcidin-deficient forms of HH. A literature review of all published cases of genetically confirmed HJV, HAMP, and TFR2 HH was performed. Phenotypic and clinical data from a total of 156 patients with non-HFE HH was extracted from 53 publications and comparedwith data from984 patientswith HFE-p. C282Y homozygousHH from the QIMR Berghofer Hemochromatosis Database. Analyses confirmed that non-HFE forms of HH have an earlier age of onset and a more severe clinical course than HFE HH. HJV and HAMP HH are phenotypically and clinically very similar and have the most severe presentation, with cardiomyopathy and hypogonadism being particularly prevalent findings. TFR2 HH is more intermediate in its age of onset and severity. All clinical outcomes analyzed were more prevalent in the juvenile forms of HH, with the exception of arthritis and arthropathy, whichweremore commonly seen in HFE HH. This is the first comprehensive analysis comparing the different phenotypic and clinical aspects of the genetic forms of HH, and the results will be valuable for the differential diagnosis and management of these conditions. Importantly, our analyses indicate that factors other than iron overload may be contributing to joint pathology in patients with HFE HH.
机译：研究了HFE相关遗传性血细胞瘤（HH）的临床进展及其表型变异性得到了很好的研究。较少是关于HJV，HAMP或TFR2基因中的突变非HEEHCAUSED的自然病史。本研究的目的是比较Hepcidin缺陷形式的表型和临床介绍。对所有已发表的遗传证实HJV，HAMP和TFR2 HH的文献综述进行了研究。从53个出版物中提取了总共156例非HFE HH患者的表型和临床资料，并与HFE-P患者的984例患者进行了比较。 C282Y来自Qimr Berghofer血色瘤症数据库的Homozygoushh。分析证实，HH的非HFE形式具有早期发作的年龄，并且比HFE HH更严重的临床课程。 HJV和Hamp HH在临床上和临床上非常相似，具有最严重的呈现，具有心肌病和性腺的表现，特别是普遍存在的调查结果。 TFR2 HH在发病和严重程度的年龄更加中间。除了关节炎和关节病变外，分析的所有临床结果都在HH的少年形式中更为普遍。这是第一次综合分析比较HH的遗传形式的不同表型和临床方面，结果对于这些条件的差异诊断和管理是有价值的。重要的是，我们的分析表明，除铁过载之外的因素可能会导致HFE HH患者的关节病理学。

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