A novel splicing mutation of <i><scp>TMPRSS</scp>6</i> in a Chinese child with iron‐refractory iron deficiency anaemia

Xiong, Yuanyuan; Wu, Zhijie; Yang, Wenrui; Zhao, Xin; Peng, Guangxin; Tang, Kejing; Tian, Zheng; Xing, Haiyan; Rao, Qing; Wang, Min; Wang, Jianxiang; Zhang, Fengkui

doi:10.1111/bjh.13416

Cited by 12 publications

(13 citation statements)

References 9 publications

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“…TMPRSS6 has been reported as a BMP/SMAD pathway gene and has a role in the release of soluble form of HJV leading to the downregulation of hepcidin 9 18 . TMPRSS6 mutations have been reported in iron-refractory iron deficiency anaemia 44. In the present study, TMPRSS6 p.T331M was first identified in HH and may act as an active mutation, although further biological functional study is needed.…”

Section: Discussionmentioning

confidence: 68%

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Zhang

et al. 2018

J Med Genet

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Section: Discussionmentioning

confidence: 68%

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Zhang

et al. 2018

J Med Genet

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“…Thus, it activates the BMP pathway by increasing hepcidin transcription in the HAMP gene [106,107,108,109,110,111]. …”

Section: Hepcidinmentioning

confidence: 99%

Hepcidin: Homeostasis and Diseases Related to Iron Metabolism

et al. 2017

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Iron is an essential metal for cell survival that is regulated by the peptide hormone hepcidin. However, its influence on certain diseases is directly related to iron metabolism or secondary to underlying diseases. Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. Another genetic imbalance of iron is iron-refractory anaemia, in which serum concentrations of hepcidin are increased, precluding the flow and efflux of extra- and intracellular iron. During the pathogenesis of certain diseases, the resulting oxidative stress, as well as the increase in inflammatory cytokines, influences the transcription of the HAMP gene to generate a secondary anaemia due to the increase in the serum concentration of hepcidin. To date, there is no available drug to inhibit or enhance hepcidin transcription, mostly due to the cytotoxicity described in the in vitro models. The proposed therapeutic targets are still in the early stages of clinical trials. Some candidates are promising, such as heparin derivatives and minihepcidins. This review describes the main pathways of systemic and genetic regulation of hepcidin, as well as its influence on the disorders related to iron metabolism.

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“…Among them, only two cases were from China. In 2015, another Chinese IRIDA case was reported (Xiong et al, 2015).…”

Section: Iron Defi Cien C Y In Chinamentioning

confidence: 99%

Iron homeostasis in the human body and nutritional iron deficiency and solutions in China

et al. 2018

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Iron is one of the most abundant metals on earth and is essential to most life forms. Its level is tightly regulated, since iron does not have an excretion regulation pathway, and a high toxicity of free iron can lead to tissue damage. The purpose of this review is to summarize recent knowledge, allowing a better comprehension of iron homeostasis in human body. Two main iron regulation systems including iron‐regulatory protein (IRP)–iron‐responsive element (IRE) system, and hypoxia‐inducible factor (HIF) system are highlighted. Dietary factors which impact iron absorption in human body are discussed. China has experienced rapid economic growth over the past few decades, however, significant nutritional problems remain, especially iron deficiency. Therefore, another focus of the review article is to trace the cause of iron deficiency in China and propose some possible solutions: improving dietary diversity, food iron fortification, increasing the intake of iron nutritional supplements, and iron biofortification. Practical applications Our review focuses on iron metabolism, the regulation of iron homeostasis in the human body, and how dietary food intake impacts iron absorption and metabolism, to provide an updated summary of the iron research. Iron deficiency in China and the potential reasons are discussed. One of the reasons might be related to a large amount of plant foods. We summarize recent reports of iron deficiency in China and suggest solutions to alleviate dietary iron deficiency.

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A novel splicing mutation of TMPRSS6 in a Chinese child with iron‐refractory iron deficiency anaemia

Cited by 12 publications

References 9 publications

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants

Hepcidin: Homeostasis and Diseases Related to Iron Metabolism

Iron homeostasis in the human body and nutritional iron deficiency and solutions in China

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