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2020 1
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Hereditary hemochromatosis: An update vision of the laboratory diagnosis.
Molina CA, Ros NG, Tarancón RG, Varas LR, Flores VR, Álvarez SI. Molina CA, et al. J Trace Elem Med Biol. 2023 Jul;78:127194. doi: 10.1016/j.jtemb.2023.127194. Epub 2023 May 6. J Trace Elem Med Biol. 2023. PMID: 37163822
The 85-90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type 1). The remaining 10-15% of HC cases are caused by mutations in other non-HFE genes (HJV, HAMP, TRF2, SLC40A1, BMP6). ...
The 85-90% of Hereditary hemochromatosis cases are caused by mutations in HFE gene (HC type 1). The remaining 10-15% of HC cas …
Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup.
Lommaert E, Verlinden W, Duysburgh I, Holvoet T, Schouten J. Lommaert E, et al. Acta Gastroenterol Belg. 2023 Apr-Jun;86(2):356-359. doi: 10.51821/86.2.11249. Acta Gastroenterol Belg. 2023. PMID: 37428170 Free article.
However, hyperferritinemia can also be caused by a genetic variant in one of the iron regulatory genes, called hereditary hemochromatosis, often but not always associated with iron overload. A variation in the human Hemostatic Iron Regulator protein (HFE) gene is th …
However, hyperferritinemia can also be caused by a genetic variant in one of the iron regulatory genes, called hereditary hemochromatosis, o …
Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
Savatt JM, Johns A, Schwartz MLB, McDonald WS, Salvati ZM, Oritz NM, Masnick M, Hatchell K, Hao J, Buchanan AH, Williams MS. Savatt JM, et al. JAMA Netw Open. 2023 Oct 2;6(10):e2338995. doi: 10.1001/jamanetworkopen.2023.38995. JAMA Netw Open. 2023. PMID: 37870835 Free PMC article.
IMPORTANCE: HFE gene-associated hereditary hemochromatosis type 1 (HH1) is underdiagnosed, resulting in missed opportunities for preventing morbidity and mortality. ...
IMPORTANCE: HFE gene-associated hereditary hemochromatosis type 1 (HH1) is underdiagnosed, resulting in missed opportunities f …
Frequency Evaluation of the Interleukin-6 -174G>C Polymorphism and Homeostatic Iron Regulator (HFE) Mutations as Disease Modifiers in Patients Affected by Systemic Lupus Erythematosus and Rheumatoid Arthritis.
Carini M, Fredi M, Cavazzana I, Bresciani R, Ferrari F, Monti E, Franceschini F, Biasiotto G. Carini M, et al. Int J Mol Sci. 2023 Nov 14;24(22):16300. doi: 10.3390/ijms242216300. Int J Mol Sci. 2023. PMID: 38003490 Free PMC article.
In these cohorts, the frequency of the IL-6 polymorphism -174G>C located in the IL-6 gene promoter was tested. Moreover, the frequencies of the three HFE gene variations associated with iron overload were analyzed: p.His63Asp, p.Ser65Cys and p.Cys282Tyr. The two …
In these cohorts, the frequency of the IL-6 polymorphism -174G>C located in the IL-6 gene promoter was tested. Moreover, the frequencies …
Risk Effects of rs1799945 Polymorphism of the HFE Gene and Intergenic Interactions of GWAS-Significant Loci for Arterial Hypertension in the Caucasian Population of Central Russia.
Ivanova T, Churnosova M, Abramova M, Ponomarenko I, Reshetnikov E, Aristova I, Sorokina I, Churnosov M. Ivanova T, et al. Int J Mol Sci. 2023 May 5;24(9):8309. doi: 10.3390/ijms24098309. Int J Mol Sci. 2023. PMID: 37176017 Free PMC article.
AH-associated variants are conjecturally functional for 101 genes involved in processes related to the immune system (major histocompatibility complex protein, processing/presentation of antigens, immune system process regulation, etc.). In conclusion, the rs1799945 polymorphism …
AH-associated variants are conjecturally functional for 101 genes involved in processes related to the immune system (major histocompatibili …
Platelet counts in HFE p.C282Y/p.C282Y and wt/wt post-screening clinical evaluation participants.
Barton JC, Barton JC, Acton RT. Barton JC, et al. Platelets. 2023 Dec;34(1):2217933. doi: 10.1080/09537104.2023.2217933. Platelets. 2023. PMID: 37260121 Free article.
Hemochromatosis is typically associated with inheritance of two copies of p.C282Y, a common mutation of the HFE gene on chromosome 6p that regulates iron absorption.Platelet counts, age, and serum levels of liver enzymes have been used to estimate risks of cirrhosis …
Hemochromatosis is typically associated with inheritance of two copies of p.C282Y, a common mutation of the HFE gene on chromo …
Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: Associations in a large community cohort.
Pilling LC, Atkins JL, Melzer D. Pilling LC, et al. Hepatology. 2022 Dec;76(6):1735-1745. doi: 10.1002/hep.32575. Epub 2022 Jun 17. Hepatology. 2022. PMID: 35567766 Free PMC article.
Males homozygous for the p.C282Y missense mutation in the Homeostatin Iron Regulator (HFE) gene have greatest risk; yet, only a minority develop these conditions. ...
Males homozygous for the p.C282Y missense mutation in the Homeostatin Iron Regulator (HFE) gene have greatest risk; yet, only …
The effect of a natural polyphenol supplement on iron absorption in adults with hereditary hemochromatosis.
Buerkli S, Salvioni L, Koller N, Zeder C, Teles MJ, Porto G, Habermann JH, Dubach IL, Vallelian F, Frey BM, Moretti D, Baumgartner J, Zimmermann MB. Buerkli S, et al. Eur J Nutr. 2022 Sep;61(6):2967-2977. doi: 10.1007/s00394-022-02829-8. Epub 2022 Mar 23. Eur J Nutr. 2022. PMID: 35320401 Free PMC article. Clinical Trial.
In a multi-center, single-blind, placebo-controlled cross-over study, we assessed the effect of the PPS on iron absorption from an extrinsically labelled test meal and test drink in patients (n = 14) with HH homozygous for the p.C282Y variant in the HFE gene. We mea …
In a multi-center, single-blind, placebo-controlled cross-over study, we assessed the effect of the PPS on iron absorption from an extrinsic …
HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.
Barton JC, Barton JC, Acton RT. Barton JC, et al. Hereditas. 2022 Jun 6;159(1):25. doi: 10.1186/s41065-022-00237-w. Hereditas. 2022. PMID: 35659379 Free PMC article.
BACKGROUND: Human leukocyte antigen (HLA)-A*03, hemochromatosis ancestral haplotype marker, was associated with greater iron overload in hemochromatosis cohorts reported before discovery of the HFE gene. We sought to learn whether an A*03-linked locus influences phe …
BACKGROUND: Human leukocyte antigen (HLA)-A*03, hemochromatosis ancestral haplotype marker, was associated with greater iron overload in hem …
13 results