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Journal articles on the topic 'Non HFE Hemochromatosi'

Author: Grafiati

Published: 11 March 2023

Last updated: 31 July 2025

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1

Hernández, Gonzalo, Xenia Ferrer-Cortès, Veronica Venturi, et al. "New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis." Genes 12, no. 12 (2021): 1980. http://dx.doi.org/10.3390/genes12121980.

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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 the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three famili

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2

Anderson, Gregory J., and Lawrie W. Powell. "HFE and Non-HFE Hemochromatosis." International Journal of Hematology 76, no. 3 (2002): 203–7. http://dx.doi.org/10.1007/bf02982788.

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3

Pietrangelo, Antonello. "Non-HFE Hemochromatosis." Seminars in Liver Disease 25, no. 04 (2005): 450–60. http://dx.doi.org/10.1055/s-2005-923316.

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4

Lima Santos, Paulo Caleb Júnior d., Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, and Alexandre Costa Pereira. "Non-HFE hemochromatosis." Revista Brasileira de Hematologia e Hemoterapia 34, no. 4 (2012): 311–16. http://dx.doi.org/10.5581/1516-8484.20120079.

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5

Pietrangelo, Antonello. "Non-HFE hemochromatosis." Hepatology 39, no. 1 (2004): 21–29. http://dx.doi.org/10.1002/hep.20007.

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6

Bardou-Jacquet, Edouard, and Pierre Brissot. "Diagnostic Evaluation of Hereditary Hemochromatosis (HFE and Non-HFE)." Hematology/Oncology Clinics of North America 28, no. 4 (2014): 625–35. http://dx.doi.org/10.1016/j.hoc.2014.04.006.

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7

Turshudzhyan, Alla, David C. Wu, and George Y. Wu. "Primary Non-HFE Hemochromatosis: A Review." Journal of Clinical and Translational Hepatology 000, no. 000 (2023): 000. http://dx.doi.org/10.14218/jcth.2022.00373.

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8

Rabideau, Marina M., Hannah J. White, Michael Anderson, and Anne Deucher. "Clinical Testing of Five Hereditary Hemochromatosis-Related Genes: Preliminary Evidence for the Benefit of Next Generation Sequencing." Blood 124, no. 21 (2014): 1355. http://dx.doi.org/10.1182/blood.v124.21.1355.1355.

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Abstract Introduction Hereditary hemochromatosis (HH) is a genetic form of iron overload. In cases of excessive iron deposition, serious clinical manifestations may occur, such as liver damage, cardiomyopathy, diabetes, and arthritis. First described in 1996, the HFE gene leads to autosomal recessive HH with reduced penetrance. In other words, two mutations in the HFE gene need to be present in a patient in order to develop symptoms of HFE-related HH, but not all patients with two mutations are affected. In the last 15 years, 4 additional genes were discovered that cause HH: HAMP (hepcidin), H

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9

Sandhu, Kam, Kaledas Flintoff, Mark D. Chatfield, et al. "Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease." Blood 132, no. 1 (2018): 101–10. http://dx.doi.org/10.1182/blood-2018-02-830562.

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Key PointsThis comprehensive comparison of the genetic subtypes of hemochromatosis reveals more severe iron overload and disease in non-HFE forms. Arthropathy is more common in HFE-related hemochromatosis, suggesting that joint disease may not be associated with iron.

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10

Viprakasit, Vip, Alison T. Merryweather-Clarke, Yingyong Chinthammitr, et al. "Molecular Diagnosis of the First Ferroportin Mutation (C326Y) in the Far East Causing a Dominant Form of Inherited Iron Overload." Blood 104, no. 11 (2004): 3204. http://dx.doi.org/10.1182/blood.v104.11.3204.3204.

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Abstract Genetic hemochromatosis (HH) is a common inherited disorder in populations of European origin in which different types of genetic hemochromatosis (type 1–4) have been characterized. Most hemochromatosis-type 1 patients are homozygotes or compound heterozygotes for two HFE mutations C282Y and H63D. Studies of several non-HFE iron overload families led to identification of mutations in hemojuvelin and hepcidin (juvenile form-HFE2A and B), transferrin receptor 2 (HFE3) and ferroportin (HFE4) as a cause of different forms of hemochromatosis. In the Far East, inherited hemochromatosis has

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11

Bardou-Jacquet, Edouard, Zeineb Ben Ali, Marie-Pascale Beaumont-Epinette, Olivier Loreal, Anne-Marie Jouanolle, and Pierre Brissot. "Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects." Clinics and Research in Hepatology and Gastroenterology 38, no. 2 (2014): 143–54. http://dx.doi.org/10.1016/j.clinre.2013.11.003.

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12

Zoller, Heinz, and Benjamin Henninger. "Pathogenesis, Diagnosis and Treatment of Hemochromatosis." Digestive Diseases 34, no. 4 (2016): 364–73. http://dx.doi.org/10.1159/000444549.

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Hemochromatosis is a common cause of chronic liver disease and HFE genotyping allows decisive and non-invasive diagnosis. Molecular and clinical genetic studies have led to the identification of genes other than HFE in patients with inherited diseases associated with increased hepatic iron storage that can cause hemochromatosis, which adds complexity to a diagnostic approach to patients with suspected hemochromatosis. Despite major advances in genetics, hepatic iron quantification by non-invasive methods therefore remains the key to the diagnosis of hemochromatosis. Although associated with ho

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13

Barton, James C., and J. Clayborn Barton. "Dupuytren's Contracture in Alabama HFE Hemochromatosis Probands." Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders 5 (January 2012): CMAMD.S9935. http://dx.doi.org/10.4137/cmamd.s9935.

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Background Dupuytren's contracture (DC) and HFE hemochromatosis occur in some of the same at-risk populations and present with similar comorbid conditions. Methods We estimated DC prevalence in two cohorts of white Alabama hemochromatosis probands (294 C282Y homozygotes, 67 C282Y/H63D compound heterozygotes) in a retrospective study. We performed logistic regressions on DC using the following independent variables: age, body mass index, heavy ethanol consumption, serum ferritin, elevated serum AST/ALT, non-alcoholic fatty liver disease, viral hepatitis, cirrhosis, and diabetes. Results One man

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14

Nelson, James E., and Kris V. Kowdley. "Non-HFE hemochromatosis: Genetics, pathogenesis, and clinical management." Current Gastroenterology Reports 7, no. 1 (2005): 71–80. http://dx.doi.org/10.1007/s11894-005-0069-y.

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15

Chaudhry, Hunza, Aalam Sohal, Arpine Petrosyan, Gieric Laput, Marina Roytman, and Devang Prajapati. "Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis." ACG Case Reports Journal 10, no. 1 (2023): e00982. http://dx.doi.org/10.14309/crj.0000000000000982.

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16

Girelli, Domenico, Giacomo Marchi, and Fabiana Busti. "Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation." Hematology 2024, no. 1 (2024): 434–42. https://doi.org/10.1182/hematology.2024000568.

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Abstract The term hemochromatosis refers to a group of genetic disorders characterized by hepcidin insufficiency in the context of normal erythropoiesis, iron hyperabsorption, and expansion of the plasma iron pool with increased transferrin saturation, the diagnostic hallmark of the disease. This results in the formation of toxic non–transferrin-bound iron, which ultimately accumulates in multiple organs, including the liver, heart, endocrine glands, and joints. The most common form is HFE-hemochromatosis (HFE-H) due to p.Cys282Tyr (C282Y) homozygosity, present in nearly 1 in 200 people of Nor

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17

Finberg, Karin E., Rebecca Whittlesey, Mark D. Fleming, and Nancy C. Andrews. "Tmprss6 Is a Genetic Modifier of the Hfe-Hemochromatosis Phenotype in Mice." Blood 114, no. 22 (2009): 625. http://dx.doi.org/10.1182/blood.v114.22.625.625.

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Abstract Abstract 625 HFE-associated hereditary hemochromatosis is an autosomal recessive disorder characterized by inappropriately elevated absorption of dietary iron by the gastrointestinal mucosa, resulting in excessive storage of iron in multiple organs. A significant proportion of individuals who are homozygous for HFE mutations fail to develop clinical symptoms, suggesting that environmental and/or genetic factors may influence the penetrance of this disorder. In vitro and animal studies have revealed that HFE promotes the expression of hepcidin, a circulating hormone produced by the liv

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18

Wallace, Daniel F., Palle Pedersen, Jeannette L. Dixon, et al. "Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis." Blood 100, no. 2 (2002): 692–94. http://dx.doi.org/10.1182/blood.v100.2.692.

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Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been imp

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19

Panigrahi, I., F. Ahmad, R. Kapoor, PK Sharma, G. Makharia, and R. Saxena. "Evidence for non-HFE linked hemochromatosis in Asian Indians." Indian Journal of Medical Sciences 60, no. 12 (2006): 491. http://dx.doi.org/10.4103/0019-5359.28978.

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20

Washington, Kay. "Hepatic Iron Deposition: New Observations in non-HFE Hemochromatosis." Advances in Anatomic Pathology 13, no. 6 (2006): 341–42. http://dx.doi.org/10.1097/01.pap.0000213060.51639.23.

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21

Castiella, Agustin, Eva Zapata, Pedro Otazua, Leire Zubiaurre, and Javier Fernandez. "Non-HFE-related hemochromatosis: The role of genetic factors." Hepatology 51, no. 4 (2010): 1473–74. http://dx.doi.org/10.1002/hep.23603.

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22

Lommaert, E., W. Verlinden, I. Duysburgh, T. Holvoet, and J. Schouten. "Hyperferritinemia and non-HFE hemochromatosis: differential diagnosis and workup." Acta Gastro Enterologica Belgica 86, no. 2 (2023): 356–59. http://dx.doi.org/10.51821/86.2.11249.

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Hyperferritinemia is a common reason for referral to a hepatogastroenterologist. The most frequent causes are not associated with iron overload (e.g. inflammatory diseases, alcohol abuse, metabolic syndrome, etc.). 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 the most common genotype, but many other variants have been described. In this paper we discuss two cases of rare hyperfe

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23

Fracanzani, Anna Ludovica, Alberto Piperno, Luca Valenti, et al. "Hemochromatosis in Italy in the Last 30 Years. Role of Genetic and Acquired Factors." Blood 114, no. 22 (2009): 2003. http://dx.doi.org/10.1182/blood.v114.22.2003.2003.

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Abstract Abstract 2003 Poster Board I-1025 Background & Aims Clinical presentation of hereditary hemochromatosis markedly changed in the recent years. The aim of the study was to analyze a large series of consecutive Italian patients with hemochromatosis diagnosed between 1976 and 2007 to define whether the genetic background and the presence of acquired risk factors influenced the severity of iron overload and the natural history of the disease across the years. Methods: A cohort of 452 Italian patients with iron overload, of whom 338 HFE-related (C282Y homozygotes or compound C82Y/H63D h

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24

Saruc, Murat, Ender Altiok, Gultekin Barut, et al. "P0096 IT IS NOT ALWAYS NON-HFE HEMOCHROMATOSIS IN TURKEY." European Journal of Internal Medicine 20 (May 2009): S37. http://dx.doi.org/10.1016/s0953-6205(09)60116-3.

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25

Farrell, Colin P., Charles J. Parker, and John D. Phillips. "Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis." Blood Cells, Molecules, and Diseases 55, no. 2 (2015): 101–3. http://dx.doi.org/10.1016/j.bcmd.2015.04.002.

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26

Stöllberger, Claudia, and Josef Finsterer. "Non-compaction and polyneuropathy in a patient homozygous for the H63D HFE gene mutation." Open Medicine 6, no. 3 (2011): 309–11. http://dx.doi.org/10.2478/s11536-011-0015-3.

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AbstractLeft ventricular hypertrabeculation/non-compaction (LVHT) is a cardiac abnormality that is increasingly reported with an association to several genetic disorders. We report an association of LVHT with genetically confirmed hemochromatosis and polyneuropathy in a 54-year old Caucasian female.

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27

Pagliosa, Cristiane Manfé, Francilene Gracieli Kunradi Vieira, Bruno Vieira Dias, Vivian Karla Brognoli Franco, Hanna Pillmann Ramos, and Edson Luiz da Silva. "Ilex paraguariensis (A. St.-Hil.) leaf infusion decreases iron absorption in patients with hereditary hemochromatosis: a randomized controlled crossover study." Food & Function 12, no. 16 (2021): 7321–28. http://dx.doi.org/10.1039/d1fo00482d.

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The acute intake of Ilex paraguariensis leaf infusion significantly inhibited the absorption of non-heme iron in hereditary hemochromatosis patients with the HFE genotype and should be considered as a potential adjuvant for iron overload control.

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28

Legros, Ludivine, Edouard Bardou-Jacquet, Marianne Latournerie, et al. "Non-invasive assessment of liver fibrosis in C282Y homozygous HFE hemochromatosis." Liver International 35, no. 6 (2015): 1731–38. http://dx.doi.org/10.1111/liv.12762.

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29

Karri, Kishore, Pradeep Yarra, Manar Shahwan, and Nimish Thakral. "S3444 Non-HFE Hemochromatosis Presenting With Intermittent Elevation of Liver Enzymes." American Journal of Gastroenterology 118, no. 10S (2023): S2270—S2271. http://dx.doi.org/10.14309/01.ajg.0000963416.48943.3c.

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30

Sandnes, Miriam, Marta Vorland, Rune J. Ulvik, and Håkon Reikvam. "HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis." Genes 12, no. 8 (2021): 1162. http://dx.doi.org/10.3390/genes12081162.

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HFE hemochromatosis is characterized by increased iron absorption and iron overload due to variants of the iron-regulating HFE gene. Overt disease is mainly associated with homozygosity for the C282Y variant, although the H63D variant in compound heterozygosity with C282Y (C282Y/H63D) contributes to disease manifestation. In this observational study, we describe the association between biochemical findings, age, gender and HFE genotype in patients referred from general practice to a tertiary care referral center for diagnostic workup based on suspected hemochromatosis due to persistent hyperfe

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31

Wallace, Daniel F., and V. Nathan Subramaniam. "The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data." Genetics in Medicine 18, no. 6 (2015): 618–26. http://dx.doi.org/10.1038/gim.2015.140.

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32

Brissot, Pierre, and Frédéric de Bels. "Current Approaches to the Management of Hemochromatosis." Hematology 2006, no. 1 (2006): 36–41. http://dx.doi.org/10.1182/asheducation.v2006.1.36.0010036.

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The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly based on cli

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33

McLaren, Gordon D., and Victor R. Gordeuk. "Hereditary hemochromatosis: insights from the Hemochromatosis and Iron Overload Screening (HEIRS) Study." Hematology 2009, no. 1 (2009): 195–206. http://dx.doi.org/10.1182/asheducation-2009.1.195.

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Abstract Hemochromatosis comprises a group of inherited disorders resulting from mutations of genes involved in regulating iron metabolism. The multicenter, multi-ethnic Hemochromatosis and Iron Overload Screening (HEIRS) Study screened ~100,000 participants in the US and Canada, testing for HFE mutations, serum ferritin and transferrin saturation. As in other studies, HFE C282Y homozygosity was common in Caucasians but rare in other ethnic groups, and there was a marked heterogeneity of disease expression in C282Y homozygotes. Nevertheless, this genotype was often associated with elevations o

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34

Skrlec, Ivana, Robert Steiner, Jasenka Wagner, and Mirela Florijancic. "Hereditary hemochromatosis gene mutations in patients with myocardial infarction." Molecular and experimental biology in medicine 2, no. 1 (2019): 24–28. http://dx.doi.org/10.33602/mebm.2.1.4.

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Hereditary hemochromatosis (HH) is a disorder of iron accumulation in tissues, which is related to coronary heart diseases. Free radicals and reactive oxygen species, created because of iron deposition, promote oxidation of LDL cholesterol and could lead to the development of atherosclerosis. Studies have shown that HFE gene mutation carriers might be at higher risk of developing cardiovascular diseases compared with non-carriers. This study aimed to determine the frequency of HFE gene mutations in patients with myocardial infarction compared to a healthy group in eastern Slavonia. A retrospec

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35

Jacolot, Sandrine, Gerald Le Gac, Virginie Scotet, Isabelle Quere, Catherine Mura, and Claude Ferec. "HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype." Blood 103, no. 7 (2004): 2835–40. http://dx.doi.org/10.1182/blood-2003-10-3366.

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Abstract Hereditary hemochromatosis is a genetically heterogeneous disease of iron metabolism. The most common form of the disorder is an adult-onset form that has mainly been associated with the HFE pC282Y/pC282Y genotype. The phenotypic expression of this genotype is very heterogeneous and could be modulated by both environmental factors and modifier genes. The non-HFE hereditary hemochromatosis forms include a juvenile onset form associated with mutations in HAMP. From a cohort of 392 C282Y homozygous patients, we found 5 carriers of an additional HAMP mutation at the heterozygous state (pR

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36

Chaudhry, Hunza, Aalam Sohal, Arpine Petrosyan, and Devang Prajapati. "S3052 Iron Man: A Case of Non-HFE Hemochromatosis Without Significant Fibrosis." American Journal of Gastroenterology 117, no. 10S (2022): e1970-e1971. http://dx.doi.org/10.14309/01.ajg.0000868848.14319.ea.

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37

Mederos, Natasha, Shane W. Quo, Chisom Anyanwoke, and Frederick Williams. "Mo1600 IRON OVERLOAD FROM POSSIBLE NON-HFE HEMOCHROMATOSIS PRESENTING WITH GASTROINTESTINAL BLEEDING." Gastroenterology 166, no. 5 (2024): S—1709. http://dx.doi.org/10.1016/s0016-5085(24)04393-2.

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38

Lee, Pauline L., James C. Barton, David J. Brandhagen, et al. "Hemojuvelin Mutations in Whites, Blacks and Asians with Primary Iron Overload and in Control Subjects." Blood 104, no. 11 (2004): 3198. http://dx.doi.org/10.1182/blood.v104.11.3198.3198.

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Abstract Mutations in the hemojuvelin gene (HJV) are a cause of juvenile hemochromatosis (JH), but do they influence the phenotype of patients with adult-onset hemochromatosis with or without mutations of the HFE gene? We sequenced the coding region of the HJV gene of 133 subjects with primary iron overload (75 whites: 50 HFE, 25 non-HFE associated; 51 blacks: 1 HFE-associated; 7 Asians). A 63 year old white woman with non-HFE iron overload was found to be a compound heterozygote for HJV mutations: one previously identified (G320V); the other novel (C321W). The patient was diagnosed at age 30

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39

Hamdi‐Rozé, Houda, Marie‐Pascale Beaumont‐Epinette, Zeineb Ben Ali, et al. "Rare HFE variants are the most frequent cause of hemochromatosis in non‐c282y homozygous patients with hemochromatosis." American Journal of Hematology 91, no. 12 (2016): 1202–5. http://dx.doi.org/10.1002/ajh.24535.

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40

Brissot, Pierre, and Frédéric de Bels. "Current Approaches to the Management of Hemochromatosis." Hematology 2006, no. 1 (2006): 36–41. http://dx.doi.org/10.1182/asheducation-2006.1.36.

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Abstract The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly bas

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41

Y., Kusumo Adi Arji Atmanto, Alim Abdullah Agus, and Arif Mansyur. "Hereditary Hemochromatosis: an Inherited Abnormality of Iron Regulation." International Journal of Current Science Research and Review 05, no. 05 (2022): 1585–95. https://doi.org/10.5281/zenodo.6562625.

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<strong>ABSTRACT: </strong>Hereditary Hemochromatosis (HH) is an autosomal recessive genetic disease characterized by abnormalities in iron regulation, mostly due to mutations in the HFE gene, leading to increased iron absorption due to hepcidin deficiency. The classification of HH is based on the type of mutated gene, which must be distinguished from non-genetic conditions that cause secondary elevations in serum iron levels such as multiple transfusions and increased iron supplementation. Pathophysiological mechanisms of HH include increased absorption of iron in the upper intestine, decreas

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42

Mura, Catherine, Odile Raguenes, and Claude Férec. "HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis." Blood 93, no. 8 (1999): 2502–5. http://dx.doi.org/10.1182/blood.v93.8.2502.

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Abstract Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A→T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confi

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43

Mura, Catherine, Odile Raguenes, and Claude Férec. "HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis." Blood 93, no. 8 (1999): 2502–5. http://dx.doi.org/10.1182/blood.v93.8.2502.408k27_2502_2505.

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Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A→T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confirm that t

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44

Badar, Sadaf, Fabiana Busti, Giampiero Zamperin, et al. "Targeted Next Generation Sequencing of the Five Hemochromatosis Genes in Italian Patients with Iron Overload and Non-Diagnostic First Level Genetic Test: A Pilot Study." Blood 124, no. 21 (2014): 4030. http://dx.doi.org/10.1182/blood.v124.21.4030.4030.

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Abstract Background and Aim: Molecular diagnosis of HFE-related hereditary hemochromatosis (HH) is typically made by searching for the C282Y and H63D mutations (first level genetic test). However, in the Mediterranean area up to one third of patients with HH phenotype do not have the “diagnostic” genotypes (C282Y homozygosity, or C282Y/H63D compound heterozygosity). This pilot study was designed to develop a “second level” next generation sequencing (NGS)-based test for rapid and simultaneous analysis of the five HH genes (HFE, HFE2, HAMP, TFR2 and SLC40A1). Methodology: we studied 61 patients

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45

Carlson, Hanqian, An-Sheng Zhang, William H. Fleming, and Caroline A. Enns. "The hereditary hemochromatosis protein, HFE, lowers intracellular iron levels independently of transferrin receptor 1 in TRVb cells." Blood 105, no. 6 (2005): 2564–70. http://dx.doi.org/10.1182/blood-2004-03-1204.

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AbstractHereditary hemochromatosis (HH) is an autosomal recessive disease that leads to parenchymal iron accumulation. The most common form of HH is caused by a single amino acid substitution in the HH protein, HFE, but the mechanism by which HFE regulates iron homeostasis is not known. In the absence of transferrin (Tf), HFE interacts with transferrin receptor 1 (TfR1) and the 2 proteins co-internalize, and in vitro studies have shown that HFE and Tf compete for TfR1 binding. Using a cell line lacking endogenous transferrin receptors (TRVb cells) transfected with different forms of HFE and Tf

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Ramos, Pedro, Ella Guy, Laura Breda, et al. "Absence of the Hemochromatosis Gene HFE Confers Protection Under Conditions of Stress Erythropoiesis." Blood 112, no. 11 (2008): 3848. http://dx.doi.org/10.1182/blood.v112.11.3848.3848.

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Abstract A single mutation in the HFE gene (C282Y), a non-classical member of the MHC-I family, may lead to hereditary hemochromatosis (HH). Although the hallmark of HH is iron overload, several lines of evidence point to a distinct hematopoietic function for HFE: HH reticuloendothelial cells are iron deficient; reconstitution of Hfe-KO mice with bone marrow (BM) from wild-type (wt) animals leads to organ iron redistribution; erythropoietic abnormalities have been reported in HH patients, including altered red cell parameters, which have been associated with iron overload. In particular, howev

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Yamashita, Cory, and Paul C. Adams. "Natural history of the non-expressing C282Y homozygote for the hemochromatosis gene (HFE)." Gastroenterology 124, no. 4 (2003): A713. http://dx.doi.org/10.1016/s0016-5085(03)83599-0.

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Guerra-Shinohara, Elvira Maria, Paulo Caleb Santos, Rodolfo Cancado, et al. "Global Sequencing for the Molecular Background of Hereditary Hemochomatosis In Brazilian Patients." Blood 116, no. 21 (2010): 5146. http://dx.doi.org/10.1182/blood.v116.21.5146.5146.

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Abstract Abstract 5146 INTRODUTION: Most hereditary hemochromatosis (HH) patients are homozygous for the p.C282Y mutation in the HFE gene. But rare HFE variants have been shown to be associated with HH. In addition, four main types of non-HFE HH are caused by mutations in the hemojuvelin (HJV), hepcidin (HAMP), transferrin receptor 2 (TFR2) and ferroportin (SLC40A1) genes. The main aim of this study was to screen for HFE, HJV, HAMP, TFR2 and SLC40A1 mutations and to investigate their relationship with HH. MATERIAL E METHODS: Fifty-one Brazilian patients with primary iron overload (transferrin

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Evangelista, Andreia Silva, Maria Cristina Nakhle, Thiago Ferreira de Araújo, et al. "HFE Genotyping in Patients with Elevated Serum Iron Indices and Liver Diseases." BioMed Research International 2015 (2015): 1–8. http://dx.doi.org/10.1155/2015/164671.

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Iron abnormalities in chronic liver disease may be the result of genetic diseases or secondary factors. The present study aimed to identify subjects with HFE-HH in order to describe the frequency of clinical manifestations, identify risk factors for iron elevation, and compare the iron profile of HFE-HH to other genotypes in liver disease patients. A total of 108 individuals with hepatic disease, transferrin saturation (TS) > 45%, and serum ferritin (SF) > 350 ng/mL were tested for HFE mutations. Two groups were characterized: C282Y/C282Y or C282Y/H63D genotypes (n=16) were the HFE hered

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Barton, James C., J. Clayborn Barton, Neha Patel, and Gordon D. McLaren. "Abdominal pain and cirrhosis at diagnosis of hemochromatosis: Analysis of 219 referred probands with HFE p.C282Y homozygosity and a literature review." PLOS ONE 16, no. 12 (2021): e0261690. http://dx.doi.org/10.1371/journal.pone.0261690.

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Background In hemochromatosis, causes of abdominal pain and its associations with cirrhosis are poorly understood. Methods We retrospectively compared characteristics of referred hemochromatosis probands with HFE p.C282Y homozygosity with/without biopsy-proven cirrhosis: sex, age, diabetes, heavy alcohol consumption, abdominal pain/tenderness, hepatomegaly, splenomegaly, non-alcoholic fatty liver disease, chronic viral hepatitis, ascites, transferrin saturation (TS), serum ferritin (SF), and iron removed by phlebotomy (QFe). We performed logistic regression on cirrhosis using characteristics i

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