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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Last data update: Apr 23, 2024
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Hemochromatosis[original query]>>Original Studies[Product Type]
Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis.
Juliann M Savatt et al. JAMA Netw Open 2023 6(10) e2338995
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C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.
Hasan S M Mahmudul et al. Journal of the Canadian Association of Gastroenterology 2022 5(5) 240-247
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Association of Genetic Variant Linked to Hemochromatosis With Brain Magnetic Resonance Imaging Measures of Iron and Movement Disorders.
Loughnan Robert et al. JAMA neurology 2022
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Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: associations in a large community cohort.
Pilling Luke C et al. Hepatology (Baltimore, Md.) 2022
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[Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16
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HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.
Sandnes Miriam et al. Genes 2021 12(8)
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A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis.
Koop Andree H et al. Clinics and research in hepatology and gastroenterology 2021 101658
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Clinical Penetrance of Hereditary Hemochromatosis-Related End-Organ Damage of C282Y Homozygosity, A Newfoundland Experience.
Lim Dennis R et al. Clinical and translational gastroenterology 2020 Nov 11(11) e00258
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Influence of VDR and HFE polymorphisms on blood lead levels of occupationally exposed workers.
Mani Monica Shirley et al. Human & experimental toxicology 2020 Nov 960327120975451
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Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy
JL Atkins et al, JAMA, November 24, 2020
Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.
Eckerström Carl et al. Annals of hematology 2020 Aug
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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.
Savatt Juliann M et al. BMC pediatrics 2020 May 20(1) 222
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Genetic testing costs and compliance with clinical best practices.
Montanez Kathleen et al. Journal of genetic counseling 2020 May
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Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report.
Garmany Ramin et al. Molecular genetics & genomic medicine 2020 Apr e1252
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Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.
Koshy Abraham et al. Journal of clinical and experimental hepatology 10(2) 163-169
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Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition.
Papadodima Stavroula et al. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 407-11
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Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Gordon Adam S, et al. American journal of human genetics 2019 9 0. (3) 526-533
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Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes.
Barton James C et al. Annals of hepatology 2018 Aug 17(5) 871-879
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Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.
Pilling Luke C et al. BMJ (Clinical research ed.) 2019 Jan 364k5222
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Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants.
Tamosauskaite Jone et al. The journals of gerontology. Series A, Biological sciences and medical sciences 2019 Jan
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Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study.
Nowak Albina et al. Medicine 2018 Oct 97(42) e12886
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Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.
Smith Daniel J et al. Gene 2018 Oct 68312-17
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Opportunistic Screening for Hereditary Hemochromatosis With Unenhanced CT: Determination of an Optimal Liver Attenuation Threshold.
Lawrence Edward M et al. AJR. American journal of roentgenology 2018 Oct 1-6
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Reduced phenotypic expression in genetic hemochromatosis with time: role of exposure to nongenetic modifiers.
Deugnier Yves et al. Journal of hepatology 2018 Sep
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[Prevention of genetic diseases : the return of the family practitioner ?]
Derbez B et al. Revue d'epidemiologie et de sante publique 2018 Sep
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Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease.
Sandhu Kam et al. Blood 2018 Jul 132(1) 101-110
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ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS.
Menghini Moreno et al. Retina (Philadelphia, Pa.) 2018 Mar 38(3) 594-599
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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Punj Sumit et al. American journal of human genetics 2018 May
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Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
Scotet Virginie et al. BMC pregnancy and childbirth 2018 Feb 18(1) 53
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Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.
Fonseca Paula Fernanda Silva et al. BMC medical genetics 2018 Jan 19(1) 3
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 23, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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