Relevant bibliographies by topics / Non HFE Hemochromatosi

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  1. Journal articles
  2. Dissertations / Theses
  3. Book chapters
  4. Conference papers

Academic literature on the topic 'Non HFE Hemochromatosi'

Author: Grafiati
Published: 11 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Non HFE Hemochromatosi"

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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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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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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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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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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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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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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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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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Dissertations / Theses on the topic "Non HFE Hemochromatosi"

1

Saliou, Philippe. "Hémochromatose HFE : influence de facteurs génétiques et non génétiques sur l'expression phénotypique." Thesis, Brest, 2014. http://www.theses.fr/2014BRES0101/document.

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L’hémochromatose HFE est une maladie du métabolisme du fer liée au gène HFE dont la principale mutation est C282Y. L’objectif général de ce travail était d’étudier l’influence de facteurs génétiques et non génétiques sur l’expression phénotypique de patients atteints d’hémochromatose HFE. Cette étude prospective incluait les patients C282Y/C282Y etC282Y/H63D inclus en protocole de saignées entre janvier 2004 et décembre 2011 au centre de santé brestois de l’EFS-Bretagne. Dans un premier temps, nous avons étudié l’influence du génotype C282Y/H63D sur la survenue d’une surcharge en fer. Nous avo
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2

Badar, Sadaf. "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." Doctoral thesis, 2015. http://hdl.handle.net/11562/909987.

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L’Emocromatosi Ereditaria (EE) è una delle malattie genetiche più comuni nella popolazione caucasica con un’incidenza di 5 malati su 1000 individui (0.5 %). La diagnosi precoce della malattia è di fondamentale importanza per il trattamento dei pazienti ed è stata notevolmente migliorata con la scoperta del gene HFE nel 1996 e con il successivo sviluppo di un semplice test genetico-molecolare delle mutazioni C282Y e H63D sul gene HFE. La maggior parte degli individui con EE sono omozigoti per la mutazione C282Y o eterozigoti composti C282Y/H63D, i due genotipi considerati diagnostici per l’Emoc
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Book chapters on the topic "Non HFE Hemochromatosi"

1

Wallace, Daniel F., and V. Nathan Subramaniam. "Non-HFE Hemochromatosis." In Iron Physiology and Pathophysiology in Humans. Humana Press, 2011. http://dx.doi.org/10.1007/978-1-60327-485-2_20.

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Pietrangelo, Antonello. "Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders." In Advances in Experimental Medicine and Biology. Springer Nature Switzerland, 2025. https://doi.org/10.1007/978-3-031-92033-2_10.

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Conference papers on the topic "Non HFE Hemochromatosi"

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Neto, Sérgio Antônio Murad, Carollayne Mendonça Rocha, Helena Da Silva Mendonça, Maria Eduarda Siqueira De Oliveira, and Alessandra Dos Santos Danziger Silvério. "RELAÇÃO ENTRE HEMOCROMATOSE HEREDITÁRIA E A INCIDÊNCIA DE CARCINOMA HEPATOCELULAR." In I Congresso Nacional Multidisciplinar de Oncologia On-line. Revista Multidisciplinar em Saúde, 2021. http://dx.doi.org/10.51161/rems/1544.

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Introdução: A Hemocromatose hereditária (HH) é uma mutação autossômica recessiva que resulta em sobrecarga de ferro. Sabe-se que essa alteração no metabolismo do ferro é causa de diversas doenças que levam seus portadores ao óbito, entre elas tem-se cirrose, diabetes, insuficiência cardíaca congestiva e carcinoma hepatocelular (CHC). Objetivos: Identificar evidências na literatura sobre a relação entre hemocromatose hereditária e a incidência de carcinoma hepatocelular. Metodologia: Através de uma revisão integrativa de literatura, encontrou-se 363 artigos nas bases de dados Pubmed, Scielo e L
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