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Year Number of Results
1997 1
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2009 2
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2012 2
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18 results

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Page 1
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.
Wu L, Zhang W, Li Y, Zhou D, Zhang B, Xu A, Wu Z, Wu L, Li S, Wang X, Zhao X, Wang Q, Li M, Wang Y, You H, Huang J, Ou X, Jia J. Wu L, et al. Orphanet J Rare Dis. 2021 Sep 28;16(1):398. doi: 10.1186/s13023-021-02020-y. Orphanet J Rare Dis. 2021. PMID: 34583728 Free PMC article.
BACKGROUND: Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. ...R639Q(homo)) with difficulty in grouping due to combined damaging variants. Cases wit …
BACKGROUND: Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-r …
The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities.
Aguilar-Martinez P, Schved JF, Brissot P. Aguilar-Martinez P, et al. Am J Gastroenterol. 2005 May;100(5):1185-94. doi: 10.1111/j.1572-0241.2005.40998.x. Am J Gastroenterol. 2005. PMID: 15842597 Review.
Then, two main entities can be differentiated: genetic (adult or juvenile) hemochromatosis characterized by elevated TfSat, and hereditary hyperferritinemias where TfSat is normal (or only slightly modified). Adult genetic hemochromatosis (GH) is related mainly to m …
Then, two main entities can be differentiated: genetic (adult or juvenile) hemochromatosis characterized by elevated TfSat, and hered …
Risk of Hepatocellular Carcinoma in Patients with Various HFE Genotypes.
Natarajan Y, Patel P, Chu J, Yu X, Hernaez R, El-Serag H, Kanwal F. Natarajan Y, et al. Dig Dis Sci. 2023 Jan;68(1):312-322. doi: 10.1007/s10620-022-07602-9. Epub 2022 Jul 5. Dig Dis Sci. 2023. PMID: 35790703
BACKGROUND AND AIMS: Hereditary hemochromatosis (HH) is associated with increased risk of hepatocellular carcinoma (HCC). ...RESULTS: We identified 5225 patients: 260 were C282Y/C282Y; 227 were C282Y/H63D; 436 were H63D heterozygous; 535 had other HFE mutations; 3767 witho …
BACKGROUND AND AIMS: Hereditary hemochromatosis (HH) is associated with increased risk of hepatocellular carcinoma (HCC). ...RESULTS: …
Genetic testing in the European Union: does economic evaluation matter?
Antoñanzas F, Rodríguez-Ibeas R, Hutter MF, Lorente R, Juárez C, Pinillos M. Antoñanzas F, et al. Eur J Health Econ. 2012 Oct;13(5):651-61. doi: 10.1007/s10198-011-0319-x. Epub 2011 May 20. Eur J Health Econ. 2012. PMID: 21598012
The most studied diseases were as follows: cystic fibrosis (12), breast and ovarian cancer (8), hereditary hemochromatosis (6), Down's syndrome (7), colorectal cancer (5), familial hypercholesterolaemia (5), prostate cancer (4), and thrombophilia (4). Genetic …
The most studied diseases were as follows: cystic fibrosis (12), breast and ovarian cancer (8), hereditary hemochromatosis (6), Down' …
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants.
Pedersen P, Milman N. Pedersen P, et al. Ann Hematol. 2009 Aug;88(8):775-84. doi: 10.1007/s00277-008-0679-1. Epub 2009 Jan 22. Ann Hematol. 2009. PMID: 19159930
The aim of this epidemiologic population survey was to assess the penetrance of the most frequent hemochromatosis (HFE) gene variants in ethnic Danish men. A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment le …
The aim of this epidemiologic population survey was to assess the penetrance of the most frequent hemochromatosis (HFE) gene variants …
Hereditary hemochromatosis genotypes and risk of ischemic stroke.
Ellervik C, Tybjaerg-Hansen A, Appleyard M, Sillesen H, Boysen G, Nordestgaard BG. Ellervik C, et al. Neurology. 2007 Mar 27;68(13):1025-31. doi: 10.1212/01.wnl.0000257814.77115.d6. Neurology. 2007. PMID: 17389307

The cumulative incidences of ICVD and ischemic stroke by age were increased for H63D/H63D vs wild type/wild type (log-rank: p = 0.003 and p < 0.001). H63D/H63D vs wild type/wild type had an age- and multifactorially adjusted hazard ratio of 2.0 (95%

…
The cumulative incidences of ICVD and ischemic stroke by age were increased for H63D/H63D vs wild type/wild type (log-rank: p …
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls.
Ellervik C, Birgens H, Tybjaerg-Hansen A, Nordestgaard BG. Ellervik C, et al. Hepatology. 2007 Oct;46(4):1071-80. doi: 10.1002/hep.21885. Hepatology. 2007. PMID: 17828789
We performed meta-analyses including 202 studies with 66,263 cases and 226,515 controls to examine associations between hemochromatosis genotypes C282Y/C282Y, C282Y/H63D, C282Y/wild type, H63D/H63D, and H63D/wild type versus wild type/wild type …
We performed meta-analyses including 202 studies with 66,263 cases and 226,515 controls to examine associations between hemochromatosis …
Risk of cancer by transferrin saturation levels and haemochromatosis genotype: population-based study and meta-analysis.
Ellervik C, Tybjaerg-Hansen A, Nordestgaard BG. Ellervik C, et al. J Intern Med. 2012 Jan;271(1):51-63. doi: 10.1111/j.1365-2796.2011.02404.x. Epub 2011 Jun 16. J Intern Med. 2012. PMID: 21605201 Free article.
In women, the corresponding absolute 10-year risk of any cancer was 34% and 30% in smokers and nonsmokers, respectively. In men, haemochromatosis genotype C282Y/C282Y versus wild type/wild type was associated with a hazard ratio of 3.7 (95% CI: 1.2-12; P=0.01 …
In women, the corresponding absolute 10-year risk of any cancer was 34% and 30% in smokers and nonsmokers, respectively. In men, haemochr …
The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing.
Watkins S, Thorburn D, Joshi N, Neilson M, Joyce T, Spooner R, Cooke A, Mills PR, Morris AJ, Stanley AJ. Watkins S, et al. Eur J Gastroenterol Hepatol. 2008 May;20(5):379-83. doi: 10.1097/MEG.0b013e3282f3e708. Eur J Gastroenterol Hepatol. 2008. PMID: 18403938
BACKGROUND: HFE-related genetic haemochromatosis (GH) is the commonest inherited genetic disorder in Caucasian populations with approximately one in 180 of individuals in the west of Scotland homozygous for the common C282Y mutation. ...
BACKGROUND: HFE-related genetic haemochromatosis (GH) is the commonest inherited genetic disorder in Caucasian populations with appro …
A survey of 2,851 patients with hemochromatosis: symptoms and response to treatment.
McDonnell SM, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, Yip R. McDonnell SM, et al. Am J Med. 1999 Jun;106(6):619-24. doi: 10.1016/s0002-9343(99)00120-5. Am J Med. 1999. PMID: 10378618
PURPOSE: Hemochromatosis is a genetic disorder of iron absorption that affects 5 per 1,000 persons and is associated with reduced health and quality of life. ...RESULTS: Of the 2,851 respondents, 99% were white and 62% were men. Circumstances that led to diagnosis o …
PURPOSE: Hemochromatosis is a genetic disorder of iron absorption that affects 5 per 1,000 persons and is associated with redu …
18 results