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Haemochromatosis.
Brissot P, Pietrangelo A, Adams PC, de Graaff B, McLaren CE, Loréal O. Brissot P, et al. Nat Rev Dis Primers. 2018 Apr 5;4:18016. doi: 10.1038/nrdp.2018.16. Nat Rev Dis Primers. 2018. PMID: 29620054 Free PMC article. Review.
Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. …
Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromat …
Identification of Genes for Hereditary Hemochromatosis.
Gerhard GS, Paynton BV, DiStefano JK. Gerhard GS, et al. Methods Mol Biol. 2018;1706:353-365. doi: 10.1007/978-1-4939-7471-9_19. Methods Mol Biol. 2018. PMID: 29423808 Review.
Hereditary hemochromatosis (HH) is one of the most common genetically transmitted conditions in individuals of Northern European ancestry. ...
Hereditary hemochromatosis (HH) is one of the most common genetically transmitted conditions in individuals of Northern European ance …
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.
Kong X, Xie L, Zhu H, Song L, Xing X, Yang W, Chen X. Kong X, et al. Orphanet J Rare Dis. 2019 Jul 8;14(1):171. doi: 10.1186/s13023-019-1097-2. Orphanet J Rare Dis. 2019. PMID: 31286966 Free PMC article.
Hemojuvelin (HJV) is the causative gene of a rare subtype of HH worldwide. This study aims to systematically review the genotypic and phenotypic spectra of HJV-HH in multiple ethnicities, and to explore the genotype-phenotype correlations. ...The present revi …
Hemojuvelin (HJV) is the causative gene of a rare subtype of HH worldwide. This study aims to systematically review the genoty …
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?
Hamdi-Rozé H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E. Hamdi-Rozé H, et al. Blood Cells Mol Dis. 2019 Feb;74:30-33. doi: 10.1016/j.bcmd.2018.10.006. Epub 2018 Oct 22. Blood Cells Mol Dis. 2019. PMID: 30389309 Free article.
Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. ...Biological features and severity of iron overload were similar in younger and older patients. Our study brings new insight on HJV hemoch …
Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. ...Biolog …
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M. Hernández G, et al. Genes (Basel). 2021 Dec 13;12(12):1980. doi: 10.3390/genes12121980. Genes (Basel). 2021. PMID: 34946929 Free PMC article.
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is t …
Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal or …
Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders.
Pietrangelo A. Pietrangelo A. Adv Exp Med Biol. 2025;1480:131-143. doi: 10.1007/978-3-031-92033-2_10. Adv Exp Med Biol. 2025. PMID: 40603789 Review.
Beyond the classic HFE-hemochromatosis, several genetic iron-loading disorders arise from mutations in genes regulating iron homeostasis, such as TFR2, HAMP, HJV, and the SLC40A1 (ferroportin) gene, as well as those involved in iron transport and mitochondrial funct …
Beyond the classic HFE-hemochromatosis, several genetic iron-loading disorders arise from mutations in genes regulating iron homeosta …
RGMs: Structural Insights, Molecular Regulation, and Downstream Signaling.
Siebold C, Yamashita T, Monnier PP, Mueller BK, Pasterkamp RJ. Siebold C, et al. Trends Cell Biol. 2017 May;27(5):365-378. doi: 10.1016/j.tcb.2016.11.009. Epub 2016 Dec 19. Trends Cell Biol. 2017. PMID: 28007423 Free PMC article. Review.
Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH). ...
Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging f …
Hepcidin and the BMP-SMAD pathway: An unexpected liaison.
Silvestri L, Nai A, Dulja A, Pagani A. Silvestri L, et al. Vitam Horm. 2019;110:71-99. doi: 10.1016/bs.vh.2019.01.004. Epub 2019 Feb 10. Vitam Horm. 2019. PMID: 30798817 Review.
Deregulation of hepcidin expression is a common feature of genetic and acquired iron disorders: in Hereditary Hemochromatosis (HH) and iron-loading anemias low hepcidin causes iron overload, while in Iron Refractory Iron Deficiency Anemia (IRIDA) and anemia of inflammation …
Deregulation of hepcidin expression is a common feature of genetic and acquired iron disorders: in Hereditary Hemochromatosis (HH) an …
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.
Dhillon BK, Chopra G, Jamwal M, Chandak GR, Duseja A, Malhotra P, Chawla YK, Garewal G, Das R. Dhillon BK, et al. Blood Cells Mol Dis. 2018 Nov;73:14-21. doi: 10.1016/j.bcmd.2018.08.003. Epub 2018 Aug 27. Blood Cells Mol Dis. 2018. PMID: 30195625
Automated DNA sequencing was performed for the promoters and entire coding exons for HFE, HJV, HAMP, TFR2 and SLC40A1. A novel homozygous mutation at position p.Gly336Ter (c.1006 G>T) in exon 4 in HJV was identified in four adult unrelated patients. ...Two patien …
Automated DNA sequencing was performed for the promoters and entire coding exons for HFE, HJV, HAMP, TFR2 and SLC40A1. A novel homozy …
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A. Pietrangelo A. Haematologica. 2017 Dec;102(12):1972-1984. doi: 10.3324/haematol.2017.170720. Epub 2017 Nov 3. Haematologica. 2017. PMID: 29101207 Free PMC article. Review.
Differential diagnosis includes mainly hereditary hemochromatosis, the syndrome commonly due to either HFE or TfR2, HJV, HAMP, and, in rare instances, FPN1 itself. ...
Differential diagnosis includes mainly hereditary hemochromatosis, the syndrome commonly due to either HFE or TfR2, HJV, HAMP, …
65 results