Relevant bibliographies by topics / Hemochromatosis

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Academic literature on the topic 'Hemochromatosis'

Author: Grafiati
Published: 4 June 2021
Last updated: 25 July 2024

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Journal articles on the topic "Hemochromatosis"

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Torbenson, Michael S., and Lori A. Erickson. "Hemochromatosis." Mayo Clinic Proceedings 97, no. 2 (February 2022): 423–24. http://dx.doi.org/10.1016/j.mayocp.2021.12.008.

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McElroy, Vanessa. "Hemochromatosis." Journal of Diagnostic Medical Sonography 25, no. 6 (October 22, 2009): 325–28. http://dx.doi.org/10.1177/8756479309344625.

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Ashinsky, Douglas. "Hemochromatosis." Postgraduate Medicine 91, no. 4 (March 1992): 137–45. http://dx.doi.org/10.1080/00325481.1992.11701249.

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Vogt, J. H. "Hemochromatosis." Acta Pathologica Microbiologica Scandinavica 21, no. 3 (August 14, 2009): 461–71. http://dx.doi.org/10.1111/j.1699-0463.1944.tb04959.x.

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Ramrakhiani, Sanjay, and Bruce R. Bacon. "Hemochromatosis." Journal of Clinical Gastroenterology 27, no. 1 (July 1998): 41–46. http://dx.doi.org/10.1097/00004836-199807000-00008.

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Wortsman, Jacobo. "Hemochromatosis." New England Journal of Medicine 335, no. 24 (December 12, 1996): 1815. http://dx.doi.org/10.1056/nejm199612123352406.

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Seligman, Paul A. "Hemochromatosis." Primary Care Case Reviews 4, no. 1 (March 2001): 40–46. http://dx.doi.org/10.1097/00129300-200103000-00007.

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Kent Holland, H., and Jerry L. Spivak. "Hemochromatosis." Medical Clinics of North America 73, no. 4 (July 1989): 831–45. http://dx.doi.org/10.1016/s0025-7125(16)30641-1.

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Powell, Lawrie W., and Thomas R. Yapp. "HEMOCHROMATOSIS." Clinics in Liver Disease 4, no. 1 (February 2000): 211–28. http://dx.doi.org/10.1016/s1089-3261(05)70104-5.

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Adams, Paul C. "Hemochromatosis." Clinics in Liver Disease 8, no. 4 (November 2004): 735–53. http://dx.doi.org/10.1016/j.cld.2004.06.002.

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Dissertations / Theses on the topic "Hemochromatosis"

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Andriopoulos, Bill. "Systemic iron distribution during hemochromatosis and inflammation." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=18749.

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Juvenile hemochromatosis (JH), anemia of chronic disease (ACD) and various inflammatory conditions such as Hepatitis C and alcoholic steatohepatitis exhibit improper handling of systemic iron. Patients with JH have mutations in either the hemojuvelin (Hjv) or hepcidin genes. Hjv appears to control the levels of hepatic hepcidin, the master hormonal regulator of iron stores. Interestingly, Hjv exists in both a cellular and soluble form that is expressed primarily in the muscle and to a lesser extent in the liver. Cellular Hjv (cHjv), localized in the liver, is a GPI-anchored protein that enhances bone morphogenic protein (BMP) mediated induction of hepcidin. On the other hand, soluble Hjv (sHjv) is a negative regulator of hepatic hepcidin expression. We hypothesize that sHjv plays an important systemic role in regulating iron homeostasis. Thus, our goal was to 1) investigate the signals regulating shedding of muscle sHjv and 2) study the hormonal function of sHjv in the target liver. Surprisingly, using in vitro and in vivo models, we observed elevated release of Hjv during hemolytic conditions. Furthermore, in contrast to previously published reports, both cell culture and animal model studies reveal sHjv as a positive regulator of hepatic hepcidin. Upon induction of hepcidin expression in the liver, the hormonal peptide exerts its actions by binding and internalizing the iron exporter ferroportin in the reticuloendothelial system (RES) and duodenum. Using a co-culture system, we investigated the effects of secreted hepatic hepcidin on the iron metabolism of target monocytes. As a result, hepatic hepcidin was shown to inhibit iron export and promote iron retention within monocytes. Inappropriate levels of hepcidin, whether low or high, results in improper handling of iron stores which may potentially cause disease, on both sides of the iron spectrum. On one side of the scale, such as in hemochromatosis, inappropriately low hepcidin expression permits elevated mob
L'hemochromatose juvénile (HJ), anémie de maladie chronique (ACD) et des conditions inflammatoires variées, telles que l'Hépatite C et la steatopathie de l'alcoolique démontrent la mauvaise manipulation du fer systémique. Les patients atteints de l'HJ ont des mutations dans soit, les gènes hemojuvelin (Hjv) ou hepcidine. Jusqu'à maintenant, Hjv semble contrôler les niveaux d'hepcidine hépatique, le régulateur maître pour les réserves de fer. D'autre part, l'Hjv soluble (sHjv) est un régulateur négatif d'expression d'hepcidine hépatique. Nous avons élaboré l'hypothèse que le sHjv joue un rôle systémique important dans la régulation d'homeostasie du fer. Alors, notre objectif était de 1) rechercher les signaux régulant la perte de muscle sHjv et 2) d'étudier la fonction hormonale du sHjv dans le foie cible. Étonnement, en utilisant des modèles in vitro et in vivo, nous avons observé la perte élevée de Hjv pendant des conditions hémolytiques. De plus, en contraste à des rapports précédemment publiés, les cultures cellulaires ainsi que les modèles basés sur les animaux révèlent que la sHjv et un régulateur positif d'hepcidine hépatique. Dès l'induction d'expression d'hepcidine dans le foie, la peptide hormonale exerce son action en fusionnant et en internalisant l'exportateur de fer, ferroportine dans le système réticuloendothélial (RES). En utilisant un système de co-culture, nous avons cherché les effets d'hepcidine hepatique secrété sur le métabolisme du fer de monocytes cibles. Des niveaux inappropriés de hepcidine, soit bas ou élevés, résultent dans la manipulation inappropriée des réserves de fer qui peuvent potentiellement mener à des maladies, des deux côtes du spectre de fer. D'un côté de la balance, tel que dans l'hémochromatose, des niveaux bas d'expression d'hepcidine permettent des niveaux de mobilisation élevés dans les réserves de fer du RES. La mobilisation accrue sature éventuellement s
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Andrade, Lara Filipe Rocha. "Hereditary hemochromatosis: cellular response to oxidative stress." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/12495.

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Mestrado em Bioquímica - Bioquímica Clínica
Iron is a key element for basic cellular functions. If iron homeostasis is not maintained it may lead to iron overload. Patients with Hereditary Hemochromatosis (HH) and with the C282Y HFE mutation have a progressive severe iron overload that, if it is not treated, may lead to tissue damage, that mostly culminate in hepatic cirrhosis and carcinoma. Having in mind that tissue damage in HH may be related with oxidative stress (OS) caused by iron toxicity, it is important to understand in what way the OS defense is acting in cells from HH patients with severe forms of iron overload. Few studies have been performed concerning the eventual prooxidant state in blood cells, which bear a major source of OS. Nevertheless, in a recent study it was shown that cultured lymphocytes (LY) from HH, when compared with cultured LY from controls and patients with secondary forms of hemochromatosis, have an increased protection against chromosome instability (CI) induced by 1,2:3,4 diepoxybutane (DEB) – an OS-related alkylating agent. This suggests an adaptive response of HH cells to the high level of OS. However, it is not known yet if the same response can be observed with other sources of iron toxicity, namely in the presence of bleomycin (BLM), that acts forming a complex with non-transferrin bound iron (NTBI). In order to better understand the oxidant status of HH blood cells and the putative adaptive response of HH cells to iron toxicity, a study was performed to characterize two selected OS parameters: evaluation of reduced glutathione (GSH) depletion and of lipid peroxidation (LPO). The study was performed in red blood cells (RBC) and lymphocytes (LY), either basal and after 36h in culture, with and without induction of OS. Induction of OS was performed with DEB and with BLM. A second objective of the present work was to test if the previously observed adaptive response of HH cells to DEB-induced OS can also be observed after induction with BLM. Characterization of the OS parameters was performed in RBC and LY from 5 HH patients with severe iron overload and 6 healthy donors (HD), at day 0 and after 36h of culture, non-treated and treated with DEB or BLM. Studies of CI were performed in BLM-induced LY from the same 5 HH patients and 6 HD. The results show that RBC from HH patients, compared with those from HD, have a larger GSH depletion and more LPO, either at day 0 and after 36h in culture medium. This suggests an increased level of OS in HH RBC. On the contrary, LY from HH patients present less GSH depletion after 36h of culture than LY from HD, being this effect more pronounced in DEB and BLM-treated cultures. Additionally, LPO levels were decreased in LY from HH patients after 36h of culture when compared with LY from HD. This result suggests that HH cultured LY, either non-treated or treated with DEB and BLM, have a still not completely understood mechanism of defense against OS. BLM-induced CI in cultured LY from HH patients was not different from the observed in cultured LY from HD. Therefore, we can postulate that toxicity induced by BLM did not increased CI in cells from HH patients with severe iron overload.
O ferro é um dos elementos chave para as funções celulares básicas. Se a sua homeostasia não for corretamente mantida, poderá ocorrer uma sobrecarga de ferro no organismo. Os doentes com Hemocromatose Hereditária (HH), com a mutação C282Y no gene HFE, possuem uma progressiva e severa sobrecarga de ferro que, se não for tratada, pode levar a dano nos tecidos, podendo mesmo culminar em cirrose hepática e carcinoma. Tendo em conta que o dano tecidular pode estar associado ao stress oxidativo (OS) causado pela sobrecarga de ferro, é importante perceber de que modo atua o sistema de defesa contra o OS nas células dos doentes HH com forma severa de sobrecarga de ferro. Poucos estudos foram realizados sobre o potencial estado oxidante nas células do sangue, onde se encontra uma das maiores fontes de reações oxidativas. Contudo, num estudo recente foi demonstrado que linfócitos de doentes com HH, quando comparados com linfócitos de controlos e pacientes com formas secundárias de hemocromatose, apresentam uma maior proteção relativamente à instabilidade cromossómica (CI) induzida por 1,2:3,4 diepoxibutano (DEB) – um agente alquilante que provoca OS. Este estudo sugere uma resposta adaptativa das células HH a níveis elevados de OS. No entanto, ainda não se sabe se esta mesma resposta pode ser observada com outras fontes de toxicidade do ferro, nomeadamente na presença de bleomicina (BLM) cuja atividade depende da formação de complexos com o ferro não ligado à transferrina (NTBI). Para compreender melhor o estado oxidante das células do sangue dos doentes HH e a suposta resposta adaptativa das células dos doentes de HH à toxicidade do ferro, foi feita a análise de dois parâmetros de OS selecionados: avaliação da depleção da glutationa reduzida (GSH) e da peroxidação lipídica (LPO). Esta análise foi efetuada em eritrócitos (RBC) e linfócitos (LY), tanto no tempo 0 como passadas 36h em cultura, com ou sem indução de OS. O segundo objetivo deste trabalho foi testar se a BLM promove uma resposta adaptativa à CI comparável à que foi observada com o DEB. Tanto a caracterização dos parâmetros de OS como os estudos de CI foram efetuados em células de 5 doentes com HH, com elevada sobrecarga de ferro, e em células de 6 dadores saudáveis (HD). Os resultados mostraram que os RBC dos doentes com HH, comparativamente com os dos HD, apresentam uma maior depleção de GSH e maior LPO, quer ao dia 0 quer após 36h em meio de cultura. Estes resultados sugerem um aumento de OS nos RBC dos doentes. Contrariamente, os LY dos doentes de HH apresentaram menor depleção de GSH após 36h de cultura, sendo esta mais notória nas culturas induzidas com DEB e BLM. Adicionalmente, os níveis de LPO são menores em LY dos doentes de HH, após 36h de cultura, comparativamente com os dos HD. Isto sugere que culturas de LY, quer não-tratadas quer tratadas com DEB ou BLM, têm um algum tipo de mecanismo de defesa contra o OS, ainda não compreendido. A frequência de CI induzida por BLM em LY de doentes com HH não é significativamente diferente da observada em LY de HD, não se observando assim uma diferença na capacidade de resposta à BLM, entre células de doentes e controlos. Pode-se então concluir que a toxicidade induzida por BLM não aumenta a CI em células de doentes com HH com forma severa de sobrecarga de ferro.
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Pratiwi, Rarastoeti. "Genetic analysis of haemochromatosis and characterisation of the role of HFE in iron metabolism /." [St. Lucia, Qld.], 2000. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16204.pdf.

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Hagen, Karin. "Studies on genetic hemochromatosis and the hepatotoxicity of iron /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-201-9/.

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Gomes, Cidália Maria Teixeira. "HLA and hemochromatosis disease association in São Miguel Island." Master's thesis, Universidade de Aveiro, 2008. http://hdl.handle.net/10773/792.

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Mestrado em Biologia Molecular e Celular
A hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo HLA-A*03-B*07 de um indivíduo do noroeste da Europa. O presente trabalho visou caracterizar a associação entre os alelos e haplótipos dos loci HLA-A e -B com a mutação C282Y na população da ilha de São Miguel (Açores). Este estudo englobou 130 indivíduos, negativos para as mutações HFE H63D e S65C, que foram classificados em dois grupos: grupo C282Y (48 homozigóticos ou portadores da C282Y) e grupo controlo (82 dadores de sangue sem as três mutações no gene HFE). Para todos os indivíduos, foi efectuado a genotipagem HLA-A e -B por PCR-SSP e a detecção das mutações HFE por PCR-RFLP. A análise estatística revelou que quatro alelos – A*03 (p=0.003, OR=3.33), A*26 (p=0.003, OR=8.38), A*29 (p<0.001, OR=19.18) e B*45 (p=0.003, OR=8.37) – encontram-se significativamente aumentados no grupo C282Y. Os resultados demonstram, igualmente, uma associação significativa com a mutação C282Y para o haplótipo ancestral HLA-A*03-B*07 (p=0.006, OR=8.96) e dois haplótipos não ancestrais: A*02-B*58 (p<0.001, OR=19.78) e A*29-B*45 (p<0.001, OR=27.57). Além disso, outro haplótipo A*24-B*15 foi detectado por inferência directa num doente homozigótico para o HLA-A-B e para a mutação C282Y. Provavelmente, o mecanismo genético de recombinação gerou esta diversidade de haplótipos; no entanto, não se pode excluir a hipótese de uma mutação C282Y de novo no gene HFE associada ao haplótipo HLA-A*24-B*15. Em conclusão, além do haplótipo ancestral A*03-B*07, três novos haplótipos – A*02-B*58, A*24-B*15 e A*29-B*45 – sugerem estar associados à mutação C282Y na população da ilha de São Miguel. A elevada diversidade genética observada na população açoriana pode explicar a associação entre a mutação C282Y e os haplótipos HLA.
Hereditary hemochromatosis is an autosomal recessive disease of the iron metabolism, where HFE C282Y is commonly implicated. This mutation seems to have originated by chance on the HLA-A*03-B*07 haplotype in a northwestern European individual, and spread by migration. Given that recombination generates new haplotypes, the present investigation aimed to characterize the chromosomal background of C282Y in the São Miguel Island population (Azores). This study comprises 130 individuals, all negative for H63D and S65C, which were classified into two groups: 48 homozygous or carriers for C282Y, and 82 healthy individuals without these mutations. The subjects were HLA-A and -B genotyped by PCR-SSP, and HFE mutation detection was performed by PCR-RFLP. Statistical analysis revealed that four alleles – A*03 (p=0.003, OR=3.33), A*26 (p=0.003, OR=8.38), A*29 (p<0.001, OR=19.18) and B*45 (p=0.003 OR=8.37) – and the A*03-B*07 haplotype (p=0.006, OR=8.96) were significantly increased in the C282Y group. Two non-ancestral haplotypes were also significantly associated with C282Y: A*02-B*58 (p<0.001, OR=19.78) and A*29-B*45 (p<0.001, OR=27.57). This last haplotype showed the strongest association to the mutation in study, suggesting that it may be the principal hemochromatosis-haplotype in São Miguel Island population. Another haplotype – A*24-B*15 – was detected by direct inference in a C282Y and HLA-A-B homozygous patient. Recombination most probably generated these haplotypes, before or after the island settlement. However, we can not exclude the hypothesis of a recent de novo HFE C282Y mutation on the A*24-B*15 haplotype in an individual living in the São Miguel Island. Overall, in this population, besides the ancestral A*03-B*07, three new non-ancestral haplotypes – A*02-B*58, A*24-B*15 and A*29-B*45 – appear to be associated with C282Y. The association between this recessive mutation and these haplotypes undoubtedly reflects the high genetic diversity observed in the Azoreans.
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Berlin, Daniel. "The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease /." Thesis, McGill University, 2002. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=78245.

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Although a central etiology for Alzheimer disease (AD) has not yet been determined, support has amassed for the notion that oxidative stress may be involved in the pathogenesis of AD. The disruption of iron homeostasis and iron's excessive deposition in AD brain tissues has received increased attention due to the metal's capacity to promote the production of harmful free radicals. Several studies have recently examined whether DNA mutations involved in the iron overload disorder, hemochromatosis, pose an increased risk of acquiring AD. However, the small sample size and low generalizability of previous studies have warranted further investigation. We genotyped 213 AD patients, 106 Mild Cognitively Impaired (MCI) individuals, and 63 Normal Elderly Control (NEC) subjects for the H63D and C282Y HFE mutations to examine whether a relationship exists between HFE gene status and AD presentation in our patient population. DNA analysis was conducted by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). We did not find any statistically significant associations between HFE gene status and the clinical, demographic, or neuropsychological aspects of AD in our patient population. Interesting trends that fell short of statistical significance included: (a) a deleterious effect of HFE mutations on motor performance, (b) an influence of H63D homozygosity on an earlier onset of cognitive decline, and (c) an influence of H63D homozygosity on an accelerated progression from MCI to AD.
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Dixon, Jeannette. "Screening for hereditary haemochromatosis : a pilot study /." [St. Lucia, Qld. : s.n.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe17400.pdf.

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Shearman, Jeremy David. "The molecular genetics of haemochromatosis." Thesis, University of Oxford, 1996. http://ora.ox.ac.uk/objects/uuid:ecb03d17-3cbf-4147-91aa-f252a2e5137e.

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Haemochromatosis is the most common single gene disorder to afflict North- West European populations. It is probably the most common genetic disorder of iron metabolism worldwide. As many as 1 in 250 people in the UK are affected and although the phenotype causes only a mild increase in gastrointestinal iron absorption a proportion of affected individuals will accumulate sufficient iron over their life-time to cause cirrhosis and hepatocellular carcinoma. Venesection treatment instituted before cirrhosis has established ensures a normal life expectancy, but clinical presentation is often late in life after irreversible organ injury has occurred. Identification of people at risk in the early, asymptomatic stage by measurements of iron status is unreliable. The genetic defect responsible for haemochromatosis has been sought in the hope that its identification might facilitate early diagnosis and that studies on the gene product would lead to a greater understanding of the mechanisms of mammalian iron absorption. Genetic linkage to HLA-A3 placed the gene responsible for haemchromatosis in, or close to, the major histocompatibilty complex (MHC) on the short arm of chromosome 6 and a positional cloning strategy has been adopted. This thesis describes work directed to the identification of the haemochromatosis gene by positional cloning. The region telomeric to the MHC was mapped using yeast artificial chromosomes, from which new microsatellites were isolated. These markers were used in linkage disequilibrium analyses and the mapping of a recombination breakpoint that defined a haemochromatosis gene region. This region was physically mapped in fine detail and positional candidates sought by EST database analysis. Before a systematic search for genes in the region began a strong positional candidate was reported (Feder et al 1996). Analysis of this mutation in patients from the UK confirmed this to be the ancestral haemochromatosis mutation.
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Chamoun, Stephanie, and Sarajlic Medina. "Genotypning av HFE c.845G>A, HFE c.187C>G och HFE c.193A>T för hemokromatos med hjälp av Realtids-Polymerase Chain Reaction : En kvalitetsutvecklande studie i Jönköpings län." Thesis, Hälsohögskolan, Högskolan i Jönköping, HHJ, Avd. för naturvetenskap och biomedicin, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-30788.

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Hereditär hemokromatos (HH) är en vanlig multigenetisk defekt som leder till ett onormalt förhöjt järnupptag i tarmen och ses framförallt hos kaukasisk befolkning. Sjukdomen har på senare år visats orsakats av mutationen c.845G>A men även mer ovanliga varianter som c.187C>G och c.193A>T, vilka alla finns belägna i genen HFE. HFE som finns lokaliserad intill Human Leukocyte Antigen (HLA)-genen på kromosom sex korta arm kodar för ett HFE-protein som har till uppgift att reglera kroppens järnmetabolism i interaktion med hormonet hepcidin. Vid HH avtar proteinets järnregulatoriska funktion och järnackumulation uppstår. Idag diagnostiseras HH främst via genotypning där ovanstående genvarianter påvisas. Beroende på genvariant löper individer olika hög risk för sjukdomsutveckling. I studien var syftet att verifiera det kommersiella kitet LightMix® in-vitro diagnostics kit HFE H63D S65C C282Y diagnostics kit för kvalitativ diagnostik av HFE-genotyper via Realtids-Polymerase Chain Reaction (PCR) via smältkurveanalys för eventuell införsel i rutindiagnostik. I studien kunde samtliga patientprover (n=49) ifrån Halmstad med misstänkt hemokromatos genotypas för genvarianterna i HFE-genen. Utifrån godkända resultat i prov-till-prov variation tillsammans med icke-frekventa skillnader i imprecisionstest samt 100 % samstämmighet gentemot referensmetoder på externa laboratorier, kunde slutsatsen dras att metoden är relevant för rutinverksamheten på Länssjukhuset Ryhov, Region Jönköpings Län.
Hereditary hemochromatosis (HH) is a common multi-genetic defect that results in abnormally elevated iron uptake mainly in Caucasian populations. The disease has recently been found to be caused by mutation c.845G>A, in addition to the unusual variants c.187C>G and c.193A>T, all of which are detected in the gene HFE. HFE is located adjacent to the Human Leukocyte Antigen (HLA)-gene on chromosome six’s short arm and encodes for a HFE-protein, responsible for the body's iron metabolism regulation in interaction with the hormone hepcidin. As HH decreases the protein's iron-regulatory function, the iron accumulation increases. Today HH is diagnosed primarily through genotyping where variants in the HFE-gene are detected. Depending on the variant, individuals are put at varying high risk of disease development. The aim of this study was to verify the commercial LightMix® in-vitro diagnostics kit HFE H63D S65C C282Y for qualitative diagnosis of HFE-genotypes through Real-time Polymerase Chain Reaction (PCR) and melting-curve analysis for possible introduction in routine diagnostics. In the study, all samples (n=49) from patients with suspicious hemochromatosis were genotyped for the gene variants in HFE-gene. Based on all accepted results with non-frequent differences in imprecision test and 100 % consistency against the reference methods at external laboratories conclusions could be drawn that the method is applicable for routine diagnostics at the County Hospital Ryhov in Region Jönköping.
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Hallendorff, Michelle-Angelique. "Ironing out haemochromatosis : a study of an Indian family." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21458.

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Thesis (MSc)--University of Stellenbosch, 2008.
ENGLISH ABSTRACT: Iron metabolism disorders comprise the most common disorders in humans. Hereditary haemochromatosis (HH) is a common condition resulting from inappropriate iron absorption. The most common form of the disease (Type 1) is associated with mutations in the HFE gene. The C282Y homozygous genotype accounts for approximately 80% of all reported cases of HH within the Caucasian population. A second HFE mutation, H63D, is associated with less severe disease expression. The C282Y mutation is extremely rare in Asian and African populations. The H63D mutation is more prevalent and has been observed in almost all populations. Iron overload resulting from haemochromatosis is predicted to be rare in Asian Indian populations and is not associated with common HFE mutations that are responsible for HH in the Caucasian population. The aberrant genes associated with HH in India have not yet been identified. The present study attempted to identify variants in six iron regulatory genes that were resulting in the Type 1 HH phenotype observed in two Asian Indian probands from a highly consanguineous family. The promoter and coding regions of the HMOX1, HFE, HAMP, SLC40A1, CYBRD1 and HJV genes were subjected to mutation analysis. Gene fragments were amplified employing the polymerase chain reaction (PCR) and subsequently subjected to heteroduplex single-strand conformational polymorphism (HEX-SSCP) analysis. Samples displaying aberrations were then analysed using bi-directional semi-automated DNA sequencing analysis to identify any known or novel variants within the six genes. Variants disrupting restriction enzyme recognition sites were genotyped employing restriction fragment length polymorphism (RFLP) analysis. Mutation analysis of the six genes revealed 24 previously identified variants, five novel variants (HFE: 5’UTR-840T→G, CYBRD1: 5’UTR-1813C→T, 5’UTR-1452T→C, 5’UTR- 1272T→C; HJV: 5’UTR-534G→T, 5’UTR-530G→T), one previously described microsatellite and two novel repeats. Variants identified within the SLC40A1, CYBRD1 and HJV genes do not seem to be associated with the iron overload phenotype. A previously described HAMP variant (5’UTR-335G→T) was observed in the homozygous state in both probands. This variant seems to be the genetic aberration responsible for iron overload in this Indian family. The severe juvenile haemochromatosis phenotype usually associated with HAMP mutations, was not exhibited by the two Indian probands. Their symptoms resembled those observed in classic Type 1 HH. It is suggested that variants identified in the HMOX1 and HFE genes are modifying the effect of the HAMP variant and resulting in the less severe disease phenotype. Although this variant has only been identified in one Indian family, it could shed some light in the hunt for the iron-loading gene in India.
AFRIKAANSE OPSOMMING: Oorerflike hemochromatose (OH) is ‘n algemene siektetoestand wat ontstaan as gevolg van oneffektiewe opname van yster in die liggaam. Die mees algemene vorm van die siekte (Tipe 1) word geassosieer met mutasies in die HFE-geen. Die C282Y homosigotiese genotipe is verantwoordelik vir ongeveer 80% van alle gerapporteerde gevalle van OH binne die Kaukasiese bevolking. ‘n Tweede HFE mutasie, H63D, word geassosieer met minder ernstige siekte simptome. Die C282Y mutasie is besonder skaars in Asiese en Afrika bevolkings. Daar word bespiegel dat oorerflike ysteroorlading as gevolg van hemochromatose skaars is in Asiese Indiër bevolkings en word nie geassosieer met algemene HFE mutasies wat verantwoordelik is vir OH in Kaukasiese bevolkings nie. Die abnormale gene wat wél geassosieer word met OH in Indië is tot dusver nog nie identifiseer nie. Die doel van hierdie studie was om die variante in ses yster-regulerende gene te identifiseer wat die Tipe 1 OH fenotipe in hierdie familie veroorsaak. Hierdie fenotipe is waargeneem in twee Asies Indiese familielede afkomstig van ‘n bloedverwante familie. Die promotor en koderingsareas van die HMOX1, HFE, HAMP, SLC40A1, CYBRD1 en HJV gene is gesif vir mutasies. Geen fragmente is geamplifiseer met behulp van die polimerase kettingsreaksie (PKR) en daarna aan heterodupleks enkelstring konformasie polimorfisme (HEX-SSCP) analise blootgestel. PKR produkte wat variasies getoon het, is daarna geanaliseer deur tweerigting semi-geoutomatiseerde DNS volgorde-bepalingsanalise om enige bekende of nuwe variante binne die ses gene te identifiseer. Variante waar restriksie ensiem herkenningsetels teenwoordig is, is verder analiseer met behulp van die restriksie fragment lengte polimorfisme (RFLP) analise sisteem. Mutasie analise van die ses gene het 24 bekende variante, vyf nuwe variante (HFE: 5’UTR- 840T→G, CYBRD1: 5’UTR-1813C→T, 5’UTR-1452T→C, 5’UTR-1272T→C, HJV: 5’UTR-534G→T, 5’UTR-530G→T), een bekende herhaling en twee nuwe herhalings gewys. Variante wat binne die SLC4041, CYBRD1 en HJV gene geïdentifiseer is, blyk nie om by te dra tot die ysteroorladings-fenotipe nie. Die bekende HAMP variant (5’UTR-335G→T) is waargeneem in die homosigotiese toestand in beide van die aangetaste individue. Hierdie variant blyk om die genetiese fout te wees wat verantwoordelik is vir die ysteroorlading in die betrokke Indiese familie. Die erge juvenielehemochromatose fenotipe wat meestal geassosieer word met HAMP-mutasies, is nie waargeneem in hierdie familie nie. Hul simptome kom ooreen met die simptome van die klassieke Tipe 1 OH. Dit blyk moontlik te wees dat die variante identifiseer in die HMOX1 en HFE gene die impak van die HAMP variant modifiseer en die matiger siekte-fenotipe tot gevolg het. Alhoewel hierdie variant slegs in een Indiese familie geïdentifiseer is, kan dit lig werp op die soektog na die veroorsakende ysterladingsgeen in Indië.
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Books on the topic "Hemochromatosis"

1

National Digestive Diseases Information Clearinghouse (U.S.), ed. Hemochromatosis. [Bethesda, MD]: National Digestive Diseases Information Clearinghouse, 2000.

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Parker, James N., and Philip M. Parker. The official patient's sourcebook on hemochromatosis. Edited by Icon Group International Inc and NetLibrary Inc. San Diego, Calif: Icon Health Publications, 2002.

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Garrison, Cheryl D. The Iron Disorders Institute guide to hemochromatosis. Edited by Iron Disorders Institute. 2nd ed. Naperville, Ill: Cumberland House, 2009.

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1945-, Garrison Cheryl D., and Iron Disorders Institute, eds. The Iron Disorders Institute guide to hemochromatosis. 2nd ed. Naperville, Ill: Sourcebooks, 2009.

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1945-, Garrison Cheryl D., and Iron Disorders Institute, eds. The Iron Disorders Institute guide to hemochromatosis. 2nd ed. Naperville, Ill: Sourcebooks, 2009.

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R, Weintraub Lewis, Edwards Corwin Q, Krikker Margaret, New York Academy of Sciences., and International Conference on Hemochromatosis (1st : 1987 : New York, N.Y.), eds. Hemochromatosis: Proceedings of the first international conference. New York, N.Y: New York Academy of Sciences, 1988.

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1939-, Weinberg Hedy, ed. Living with hemochromatosis: Answers to questions about iron overload. New York: Healthy Living Books, 2003.

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Abbott, Maude E. Pigmentation cirrhosis of the liver in a case of hæmochromatosis. [S.l: s.n., 1985.

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Warder, Marie. The bronze killer: The story of a family's fight against a very common enemy. Victoria, B.C: Imperani Publishers, 1988.

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Garrison, Cheryl D. The hemochromatosis cookbook: Recipes and meals for reducing the absorption of iron in your diet. Nashville: Cumberland House, 2008.

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Book chapters on the topic "Hemochromatosis"

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Siddiqui, Aazim A., and Allen O. Eghrari. "Hemochromatosis." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_588-1.

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Jeffrey, Gary P., and Paul C. Adams. "Hemochromatosis." In Evidence-based Gastroenterology and Hepatology 4e, 547–53. Chichester, UK: John Wiley & Sons, Ltd, 2019. http://dx.doi.org/10.1002/9781119211419.ch36.

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Adams, Paul C. "Hemochromatosis." In Yamada' s Textbook of Gastroenterology, 2014–22. Oxford, UK: John Wiley & Sons, Ltd, 2015. http://dx.doi.org/10.1002/9781118512074.ch101.

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Adams, Paul C. "Hemochromatosis." In Yamada's Atlas of Gastroenterology, 415–18. Oxford, UK: John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118512104.ch50.

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Pietrangelo, Antonello. "Hemochromatosis." In Textbook of Clinical Gastroenterology and Hepatology, 675–82. Oxford, UK: Wiley-Blackwell, 2012. http://dx.doi.org/10.1002/9781118321386.ch90.

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Parodi, Aurora, and Franco Rongioletti. "Hemochromatosis." In Clinical and Pathological Aspects of Skin Diseases in Endocrine, Metabolic, Nutritional and Deposition Disease, 91–93. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-60761-181-3_11.

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Siddiqui, Aazim A., and Allen O. Eghrari. "Hemochromatosis." In Encyclopedia of Ophthalmology, 848–49. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_588.

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Nelson, James E., Debbie Trinder, and Kris V. Kowdley. "Hemochromatosis." In Molecular Pathology Library, 665–76. Boston, MA: Springer US, 2010. http://dx.doi.org/10.1007/978-1-4419-7107-4_44.

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Bergasa, Nora V. "Hemochromatosis." In Clinical Cases in Hepatology, 341–70. London: Springer London, 2021. http://dx.doi.org/10.1007/978-1-4471-4715-2_11.

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Schilsky, Michael L., and Irmin Sternlieb. "Genetic Hemochromatosis." In Diseases of the Liver and Bile Ducts, 241–47. Totowa, NJ: Humana Press, 1998. http://dx.doi.org/10.1007/978-1-4612-1808-1_18.

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Conference papers on the topic "Hemochromatosis"

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Magana, Quetzalcoatl, Anuj Kapadia, Greeshma Agasthya, and Stephen Balinskas. "Automated hemochromatosis spectra analysis using neutron stimulated emission tomography." In 2012 IEEE Nuclear Science Symposium and Medical Imaging Conference (2012 NSS/MIC). IEEE, 2012. http://dx.doi.org/10.1109/nssmic.2012.6551570.

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Viveiros, A., B. Schäfer, M. Tobiasch, A. Finkenstedt, C. Kremser, M. Plaikner, B. Henninger, H. Tilg, and H. Zoller. "Low splenic iron is characteristic of HFE-associated hemochromatosis." In 51. Jahrestagung & 29. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie (ÖGGH). Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1654657.

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Esteban, Jorge Illarramendi, Montserrat Alvarellos, Mercedes Rodriguez, Amaya Zabalza, and José Juan Illarramendi. "IRON OVERLOAD IN A BREAST CANCER PATIENT WITH A HOMOZYGOUS MUTATION IN THE HFE HEMOSTATIC IRON REGULATOR GENE: CONSIDERATIONS REGARDING THE USE OF ADJUVANT HORMONE THERAPY." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2082.

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Introduction: Homozygous mutations in the HFE gene are among the causes of iron overload worldwide. Several reports suggest an increased risk of breast cancer (BC) in these patients, although there are controversial evidences on this subject. There is some discussion on the tolerance to some BC adjuvant therapies in these patients regarding aspects like the potential cardiotoxicities. Information on adjuvant hormone therapy in this setting is very limited. Case report: A 65-year- -old woman was treated with segmental resection in the left breast and selective biopsy of the sentinel node in April 2019. Pathology showed an infiltrating ductal carcinoma of 1.2 cm, grade 1, with two negative sentinel nodes. Estrogen receptor was 100%, progesterone receptor was 20%, Her2/neu was 1+, and Ki-67 was 15%. A previous diagnosis of hemochromatosis was done in October 2018 with a high transferrin saturation and a genetic analysis disclosing a homozygous C282Y mutation in the HFE gene. Regular phlebotomies every 3 months were scheduled for the treatment of the iron overload. Several points were considered for the selection of the adjuvant hormone therapy. Articular damage is a common complication of hemochromatosis. In fact, a hip prosthesis was implanted in 2018 for our patient with severe coxarthrosis. There was some risk of further articular impairment with aromatase inhibitors (AI). Furthermore, AI may have an androgenic effect, with some effect on the red cell mass. On the contrary, tamoxifen may increase the risk of porphyria crises in patients with hemochromatosis. We selected letrozole as adjuvant therapy, with good articular tolerance and fair hematological control after nearly 3 years of follow-up. Conclusion: Although homozygous HFE mutations may increase the risk of some adverse events related to BC adjuvant hormone therapy, the tolerance to letrozole in our patients has been very good, without raising further concerns.
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Mohammad, J., E. Hogan, C. Mansour, U. Jumbo, N. Shrestha, W. S. Kutsche, M. Broadwell, and M. Wilson. "Hereditary Hemochromatosis and a Year of Alcoholism: A Recipe for Failure." In American Thoracic Society 2024 International Conference, May 17-22, 2024 - San Diego, CA. American Thoracic Society, 2024. http://dx.doi.org/10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a7359.

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Çakmakci Karakaya, S., Y. S. Hasanli, and A. U. Demir. "A Case of a Welder With Secondary Hemochromatosis, Which Rarely Accompanies Pneumoconiosis." In American Thoracic Society 2024 International Conference, May 17-22, 2024 - San Diego, CA. American Thoracic Society, 2024. http://dx.doi.org/10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a5976.

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Viveiros, A., B. Schäfer, A. Finkenstedt, H. Tilg, and H. Tilg. "Diagnostic and prognostic accuracy of fibroscan and FIB-4 in hyperferritinemia and hemochromatosis." In 52. Jahrestagung & 30. Fortbildungskurs der Österreichischen Gesellschaft für Gastroenterologie & Hepatologie (ÖGGH). Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1691932.

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Zeb, H., and K. El-Kersh. "Severe Pulmonary Hypertension Associated with Hereditary Hemochromatosis: Favorable Response to Triple Combination Therapy." In American Thoracic Society 2021 International Conference, May 14-19, 2021 - San Diego, CA. American Thoracic Society, 2021. http://dx.doi.org/10.1164/ajrccm-conference.2021.203.1_meetingabstracts.a3542.

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Ganapathy, Vadivel, Ashish Gurav, Jaya P. Gnanaprakasam, Ellappan Babu, Yangzom D. Bhutia, Cynthia Reinoso Webb, and Matthew B. Grisham. "Abstract 1557: The iron-overload genetic disease hemochromatosis potentiates colonic inflammation and colon carcinogenesis." In Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PA. American Association for Cancer Research, 2015. http://dx.doi.org/10.1158/1538-7445.am2015-1557.

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Rovai, Alice, Simon Krooss, and Michael Ott. "In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice." In 39. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag, 2023. http://dx.doi.org/10.1055/s-0042-1759898.

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Seeßle, J., H. Gan-Schreier, W. Stremmel, W. Chamulitrat, and U. Merle. "Phospho- and sphingolipid metabolism is altered in hereditary hemochromatosis independent of iron content and PNPLA3 polymorphism." In 35. Jahrestagung der Deutschen Arbeitsgemeinschaft zum Studium der Leber. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0038-1677183.

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Reports on the topic "Hemochromatosis"

1

J, Bull Richard, and Larry E. Anderson. Sensitivity to Radiation-Induced Cancer in Hemochromatosis. Office of Scientific and Technical Information (OSTI), June 2000. http://dx.doi.org/10.2172/833475.

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