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Academic literature on the topic 'Hemochromatosi'

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Published: 9 March 2023
Last updated: 10 March 2023

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Journal articles on the topic "Hemochromatosi"

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Mažeikaitė, Ieva, Dalius Banionis, Sigitas Laima, and Algimantas Jasulaitis. "Hemochromatozės diagnostika ir autopsijos reikšmė. Klinikinis atvejis." Sveikatos mokslai 26, no. 2 (April 30, 2015): 53–58. http://dx.doi.org/10.5200/sm-hs.2016.027.

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Hemochromatozė – bronzinė liga, kitaip dar vadinama geležies pertekliaus ar geležies kaupimo liga, kuriai būdingas organų (ypač kepenų, taip pat – kasos, širdies, sąnarių, kaulų, hipofizės, odos, nagų) pažeidimas dėl geležies pertekliaus organizme. Paveldima hemochromatozė yra viena dažniausių genetinių ligų tarp baltosios rasės žmonių. Šiaurės Europos populiacijoje nustatoma 1 iš 220-250. Pirminė hemochromatozė – tai autosominiu recesyviniu būdu paveldima liga, dažniausia susijusi su HFE genu. Pirminės hemochromatozės eiga iki vidutinio amžiaus (40-60 metų) asimptominė. Hemochromatozei būdinga triada: kepenų cirozė, cukrinis diabetas ir odos hiperpigmentacija. Kardiomiocitų pažeidimas sukelia širdies veiklos nepakankamumą ir gali būti staigios mirties priežastis. Dažniausiai liga diagnozuojama atsitiktinai – nustačius padidėjusią geležies koncentraciją kraujo serume ir pasireiškus sunkioms, kartais mirtinoms komplikacijoms. Sergant paveldima hemochromatoze nustatomas padidėjęs serumo feritinas bei transferino įsotinimas. Paveldimą hemochromatozę diagnozuoti padeda genetinis ištyrimas – HFE geno C282Y, H63D mutacijų nustatymas. Pagrindinis hemochromatozės gydymo principas – sumažinti geležies toksinį poveikį. Pirminės hemochromatozės gydymo būdas yra flebotomija (kraujo nuleidimas). Pacientams, kuriems flebotomija yra kontraindikuotina arba jie netoleruoja šio gydymo metodo, taikomas medikamentinis gydymas – chelatais, kepenų transplantacija atliekama retai.
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Vinchi, Francesca, Andreas Simmelbauer, Sandro Altamura, Sebastian Spaich, Richard Sparla, Bruno Galy, Matthias W. Hentze, and Martina U. Muckenthaler. "Low-Iron Diet and Chelation Therapy Rescue Severe Atherosclerosis Associated with High Circulating Iron Levels." Blood 128, no. 22 (December 2, 2016): 199. http://dx.doi.org/10.1182/blood.v128.22.199.199.

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Abstract In 1981 Sullivan proposed the "iron hypothesis", which states that iron is detrimental for the cardiovascular system, promoting atherosclerosis progression. Iron levels are increased in hereditary hemochromatosis as well as in iron-loading anemias, such as thalassemia, sickle cell disease and the myelodysplastic syndromes. In the latter iron levels may be further increased due to red blood transfusions. To date it is unclear whether iron overload in these disorders promotes atherosclerosis. Conflicting evidence is provided by epidemiological data and studies in disease models. To study susceptibility to atherosclerosis we analyzed ApoE-null mice crossbred with a mouse model of hereditary hemochromatosis type IV, due to a point mutation in the iron exporter ferroportin that prevents hepcidin binding (Altamura et al., Cell Metabolism 2014). We show that at 6 and 12 months of age hemochromatotic ApoE-null mice show a strong increase in lesion size and numbers compared to ApoE-null mice. The atherosclerotic phenotype positively correlates with increased levels of serum iron and transferrin saturation, as well as with iron deposition in the vascular smooth muscle cells, which cause vascular oxidative stress and vessel stiffness. High circulating iron levels promote circulating LDL oxidation, vascular endothelium activation and permeabilization, nitric oxide consumption and inflammation (increased MCP1 and VEGF). In hemochromatotic ApoE-null mice atherosclerotic plaques show reduced collagen deposition and elevated macrophage numbers as well as lipid content and calcification, suggesting enhanced plaque vulnerability and accelerated disease progression. Consistently, these mice develop compensatory left ventricular hypertrophy, associated with increased left ventricle diastolic volume and area. To reduce iron levels we maintained hemochromatotic ApoE-null mice either on a low iron diet (iron content: <10 ppm) or on iron chelation therapy (Deferiprone 8 ml/kg daily). Both, prolonged maintenance on a low iron diet or iron chelator treatment rescued the severe atherosclerotic phenotype in 6 and 10 month-old mice. Importantly, these treatments significantly lowered serum iron levels and transferrin saturation as well as arterial iron deposition. As a consequence, endothelial activation and pro-inflammatory molecule production are strongly reduced, limiting atherosclerosis progression in these mice. Taken together our data suggest that high circulating iron levels strongly enhance the severity of atherosclerosis, thus indicating that systemic iron overload is a risk factor for cardiovascular disease. Furthermore our results demonstrate the beneficial effects of dietary iron limitation and iron chelation in counteracting iron-induced atherosclerosis progression. These observations have potential implications for pathological conditions associated with elevated systemic iron levels and highlight the importance of maintaining low systemic iron levels in these patients. Disclosures No relevant conflicts of interest to declare.
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Sokoloff, Alisa, Scott Brook, and Marvin Cooper. "Iron Studies in Hemochromatosis During Pregnancy." Blood 114, no. 22 (November 20, 2009): 5099. http://dx.doi.org/10.1182/blood.v114.22.5099.5099.

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Abstract Abstract 5099 Hereditary hemochromatosis is usually caused by a mutation in HFE gene that regulates iron uptake from the diet. The two most common mutations in the HFE gene are the well described C282Y and H63D mutations. Homozygous inheritance of either one of these mutations as well as compound heterozygous inheritance of one of each of the mutant alleles may result in a spectrum of phenotypic variants of the disease ranging from asymptomatic to multi-organ compromise. One half of a percent of the United States population carries two copies of the mutant HFE gene therefore making hemochromatosis the most common genetically inherited disease. On average one half of these patients will develop clinically significant disease. Usually hemochromatosis is a clinical diagnosis, however genetic testing as well as liver biopsy are utilized as confirmatory diagnostic modalities. Besides, hemochromatosis should be suspected in females with transferrin saturation over 45% and males over >50%. It is well established that in females hemochromatosis is usually identified later in life, likely secondary to menstruation, childbirth, and breastfeeding. We hypothesized that hemochromatotic women with elevated ferritin levels at time of conception probably do not require phlebotomies during the course of their pregnancies. In addition, this patient population likely does not require iron supplementation, otherwise indicated during pregnancy and breastfeeding. We are reporting a case of 36-year-old female found to be homozygous for C282Y mutation five months prior to becoming pregnant. This patient's transferrin saturation at the time of diagnosis was 75% and her ferritin level was 320ng/ml. Her past medical history is only significant for mitral valve prolapse. Her physical exam at the time of diagnosis was normal, except for a known II/IV systolic murmur. Although asymptomatic at presentation, this patient was found to have increased iron deposition in the liver detected with abdominal MRI. During the course of her pregnancy this patient received no iron supplementation and likewise she did not receive any phlebotomy treatments. Her iron studies were carefully monitored on average every four weeks to assess for phlebotomy or iron supplementation needs. The patient never became symptomatic from either iron overload or anemia during this pregnancy. Evidently the fetus was able to utilize maternal iron sufficiently with secondary benefit of decreasing maternal ferritin levels. Besides, despite withholding iron supplementation during pregnancy this patient did not develop a clinically significant degree of anemia. Likewise she did not develop any evidence of exacerbation of mitral valve prolapse symptoms – this complication is not uncommon during pregnancy secondary to anemia. A healthy child was delivered at term via normal vaginal delivery, with minimal complications secondary to umbilical cord enlargement without compression and a 1st degree perianal laceration with minimal blood loss. The iron panel on the child was not obtained. Date 7/28/08 at diagnosis 12/11/08 7 weeks of gestation 1/12/09 13 weeks of gestation 1/26/09 15 weeks of gestation 2/23/09 19 weeks of gestation 3/16/09 22 weeks of gestation 4/13/09 26 weeks of gestation 5/11/09 30 weeks of gestation 6/08/09 34 weeks of gestation 7/02/09 37 weeks of gestation 7/20/09 6 days postpartum Hemoglobin/Hematocrit (g/dL/%) 14.3/40.0 13.7/38.4 12.9/36.0 12.1/34.1 11.7/33.5 11.6/34.0 13.2/36.1 13.1/36.7 12.6/35.4 13.2/37.0 13.3/38.3 Serum Iron (μg/dL) 153 169 207 214 233 260 260 247 285 287 95 TIBC (μg/dL) 203 220 217 234 243 270 311 295 295 310 307 Ferritin (ng/mL) 320 258 268 220 180 147 95 75 66 145 174 Transferrin Saturation (%) 75 77 92 91 92 93 84 92 94 93 31 Maternal ferritin levels decreased significantly during the course of this pregnancy, reaching a nadir of 66ng/mL by 34 weeks of gestation, with subsequent rise to 145ng/mL two weeks prior to delivery. In conclusion, the favorable outcome of this case supports our stated hypothesis in at least the homozygous C282Y HFE gene mutation patient population with elevated preconception ferritin levels (to at least 320 ng/mL) and increased preconception transferrin saturations (to at least 75%). Further studies of hemochromatotic pregnant women with the aforementioned genotype (most common) as well as other hereditary hemochromatosis genotypes during both pregnancy, and breastfeeding may be warranted. Disclosures No relevant conflicts of interest to declare.
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Weizer, Orly, Konstantin Adamsky, Laura Breda, Ioav Cabantchik, Eliezer Rachmilewitz, William Breuer, Alon Harmelin, et al. "Hepcidin Expression in Cultured Liver Cells Responds Differently to Iron Overloaded Sera Derived from Patients with Thalassemia and Hemochromatosis." Blood 104, no. 11 (November 16, 2004): 3196. http://dx.doi.org/10.1182/blood.v104.11.3196.3196.

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Abstract We have recently shown that hepcidin expression undergoes a significant down regulation in the liver of a thalassaemia intermedia mouse model (TIM) C57Bl/6 Hbbth3/+. (Adamsky K. et al. BJH2004;124(1):123–4). We extended these studies to a b-thalassemia major mouse model (TMM) generated via engraftment with beta-globin-null (Hbbth3/th3) fetal liver cells. The resulting phenotype displayed considerably more severe symptoms than the TIM: the TMM succumbed to ineffective erythropoiesis within 60 days, developed massive splenomegaly, severe anemia, extramedullary hematopoiesis and hepatic iron overload. The expression levels of various iron metabolism-related genes (normalized to b-actin) were analyzed by quantitative RT-PCR on RNA extracted from the livers of adult mice. When compared to wild-type (WT) C57Bl/6 mice, the liver mRNA expression levels of TMM were markedly reduced for hepcidin and TfR2 (16 and 3 fold respectively), markedly increased for the lipocalin NGAL and transferrin receptor 1 (TfR1) (2.7 and 3.6 fold respectively), moderately increased for the ferroportin transporter (IREG1) (1.4 fold) and unaltered for the hemochromatosis gene (HFE). A possible mechanism that could explain the decreased expression of liver hepcidin in thalassaemia is one based on a putative regulatory serum factor that is associated with enhanced erythropoietic activity. In order to assess this hypothesis we compared the hepcidin inductive capacity of sera from iron-overloaded patients that either had or had not enhanced erythropoiesis, namely thalassemia and hemochromatosis, respectively. These included the following individuals: 14 with β-thalassemia major, 22 with hereditary hemochromatosis (HFE 282C mutation) and 3 healthy. The human sera were analyzed in terms of their capacity to modulate expression of iron-related genes in human hepatoma HepG2 cells, using quantitative RT-PCR. Hepcidin expression evoked by thalassemic sera was an average of 3 fold lower than that evoked by normal human serum, whereas hemochromatotic sera evoked an average of 7.83 fold increase. The down regulating effect of thalassemic sera on hepcidin expression, suggests the possible involvement of an upstream factor whose serum levels might increase in thalassemia due to ineffective erythropoiesis, i.e. an “erythropoietic regulator”. The effect of such an “erythropoietic regulator” is assumed to override the expected increase in hepcidin expression that results from the “stores regulator” which is responsive to iron overload such as in hemochromatosis (where there is no ineffective erythropoiesis). The reduced hepcidin expression found in thalassaemia might explain the increased enteric iron absorption whose extent could be moderated either by factors that increase hepcidin expression or by administration of hepcidin itself.
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Gottschalk, R., G. Neeck, R. Wigand, B. Vogtherr, and J. P. Kaltwasser. "Die hämochromatotische Arthropathie – Eine frühe Manifestation genetischer Hämochromatose (Hemochromatotic Arthropathy – an early manifestation of genetic hemochromatosis)." Zeitschrift f�r Rheumatologie 56, no. 3 (July 9, 1997): 156–62. http://dx.doi.org/10.1007/s003930050031.

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Oh, Chang-Kyu, and Yuseok Moon. "Dietary and Sentinel Factors Leading to Hemochromatosis." Nutrients 11, no. 5 (May 10, 2019): 1047. http://dx.doi.org/10.3390/nu11051047.

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Although hereditary hemochromatosis is associated with the mutation of genes involved in iron transport and metabolism, secondary hemochromatosis is due to external factors, such as intended or unintended iron overload, hemolysis-linked iron exposure or other stress-impaired iron metabolism. The present review addresses diet-linked etiologies of hemochromatosis and their pathogenesis in the network of genes and nutrients. Although the mechanistic association to diet-linked etiologies can be complicated, the stress sentinels are pivotally involved in the pathological processes of secondary hemochromatosis in response to iron excess and other external stresses. Moreover, the mutations in these sentineling pathway-linked genes increase susceptibility to secondary hemochromatosis. Thus, the crosstalk between nutrients and genes would verify the complex procedures in the clinical outcomes of secondary hemochromatosis and chronic complications, such as malignancy. All of this evidence provides crucial insights into comprehensive clinical or nutritional interventions for hemochromatosis.
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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 homozygosity for the C282Y polymorphism in the HFE gene in >80% of patients, hemochromatosis is a complex genetic disease with strong environmental disease modifiers. Testing for mutations in the non-HFE hemochromatosis genes transferrin receptor 2, hemojuvelin, HAMP and SLC40A1 is complex, costly and time-consuming. Demonstration of hepatic iron overload by liver biopsy or MRI is therefore required before such complex tests are carried out. The pathogenesis of chronic liver disease in hemochromatosis is mainly attributed to the redox potential of tissue iron, and only the more recent studies have focused on the toxic properties of circulating iron. Considering the fact that an increased saturation of transferrin and high iron in plasma are the hallmark of all hemochromatosis forms, an alternative view would be that toxic iron in the circulation is involved in the pathogenesis of hemochromatosis. Recent studies have shown an increased concentration of redox-active iron in plasma in patients with increased transferrin saturation. This finding supports the hypothesis that tissue iron may be the ‘smoking gun' of iron-induced organ damage. Taken together, caring for patients with suspected or established hemochromatosis still remains a challenge, where understanding the genetics, biochemistry and cell biology of hemochromatosis will aid better diagnosis and treatment of affected individuals.
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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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Dissertations / Theses on the topic "Hemochromatosi"

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GRENI, FEDERICO. "Variabilità fenotipica nell'emocromatosi: studio di due potenziali modificatori genetici in PCSK7 e GNPAT." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2017. http://hdl.handle.net/10281/140994.

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Introduction and aim: Hereditary hemochromatosis (HH) is a genetic disease characterized by a progressive iron overload in different tissues. Homozygosity for the p.C282Y mutation is the most frequent genotype associated with the disease and it is directly responsible for an inappropriate production of hepcidin, the main regulator of iron homeostasis. Several evidences indicated that p.C282Y homozygous genotype has an incomplete penetrance due to the combined action of genetic and acquired modifier factors. Recently, the attention was focused on GNPAT rs11558492 and PCSK7 rs236918 single nucleotide polymorphisms (SNPs). The aim of my thesis was to analyse the role of these potential genetic modifiers in an Italian cohort of p.C282Y homozygotes. Materials and methods: Patients: 298 patients (205 males and 93 females) and 169 healthy controls. Exclusion criteria were: alcohol intake >50 g/day in men and >30 g/day in women, chronic hepatitis, inflammatory status. SNPs genotyping was performed by ARMS-PCR or PCR-RFLP. Random samples were confirmed by direct sequencing. Patients and controls allelic and genotypic frequencies were compared to EVS database and analysed according to serum ferritin levels (SF), liver iron concentration (LIC) measured by liver biopsy or magnetic resonance, iron removed (IR) and liver fibrosis histologically assessed by Ishak score (IS). Fisher’s exact test, chi-squared test and t-test were used to perform statistical comparisons between groups and averages of considered variables. Results: GNPAT rs11558492 analysis. Our results demonstrated that: a. allelic and genotypic frequencies were comparable among patients, controls and EVS data. No significant differences were found even considering two subgroups of males only with extreme phenotypes (SF <1000 mcg/L, IR <5 g and/or LIC <100 mcmol/g vs SF >2000 mcg/L, IR >10 g and/or LIC> 50 mcmol/g); b. according to iron indices, allelic and genotypic frequencies did not significantly differ neither among patients nor compared to controls, limited to SF; c. similarly, minor allele (G) frequency did not differ between patients with absent/mild fibrosis and patients with severe fibrosis/cirrhosis (20.5% vs 25%). PCSK7 rs236918 analysis. Our study demonstrated that: a. minor allele (C) frequency was higher in patients with severe fibrosis/cirrhosis than in patients with absent/mild fibrosis (21.9% vs 7.1%; p=0.003); b. C-allele carriers were more likely to have worse liver staging scores than wild-type patients (OR=2.77, p=0.0018; ORmale-only=2.56, p=0.0233); c. PCSK7 genotype has a direct effect on severe fibrosis/cirrhosis (OR=3.11, p=0.0157) and a mild nonsignificant indirect effect mediated through SF and IR (mediation analysis: 22% and 28%, respectively). Conclusions: Our results demonstrated that: a. GNPAT rs11558492 is not a major modifier of iron status in HH patients and controls, and is not associated with severe fibrosis/cirrhosis in HH patients. b. PCSK7 rs236918 C allele is a risk factor for cirrhosis development in Italian HH patients.
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Kučinskas, Laimutis. "Metabolinės kepenų ligos: Vilsono ligos ir hfe-hemochromatozės genetinė charakteristika." Doctoral thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130621_093349-72294.

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Vilsono liga (VL) ir HFE-hemochromatozė – monogeninės, pagal Mendelio dėsnius paveldimos retos ligos. Šių ligų priežastis yra ATP7B arba HFE genų mutacijos, sukeliančios gyvybei pavojingas lėtines ligas. Šio darbo metu buvo tirti ligonių, sergančių metabolinėmis kepenų ligomis – VL ir HFE–hemochromatoze genų mutacijos, jų dažnis, ligų fenotipinės charakteristikos bei HFE geno dažniausių mutavusių alelių dažnis Lietuvos savanorių kraujo donorų populiacijoje. Buvo nustatyta, kad Rytų ir Centrinės Europos šalių populiacijoms būdinga c.3207C>A (p.His1069Gln) mutacija ATP7B gene taip pat dažniausia ir Lietuvoje. Patvirtinta, kad VL jautriausias metodas - molekulinis genetinis diagnostikos metodas. Kitiems klinikiniams laboratoriniams tyrimo metodams buvo būdingas mažesnis jautrumas. Ištyrus Lietuvos savanorius kraujo donorus nustatyta, kad HFE–hemochromatozės geno c.845G>A (p.Cys282Tyr) ir c.187C>G (p.His63Asp) mutacijų dažnis yra artimiausias Lenkijai ir kitoms Rytų ir Centrinės Europos šalims. HFE-hemochromatozės išsivystymo rizika yra 1,3 proc. Lietuvos savanoriams kraujo donorams, kurių genotipas c.[845G>A]; [845G>A] (0,1 proc. tiriamųjų) arba genotipas c.[845G>A];[187C>G], (1,2 proc. tiriamųjų). Tiriant HFE geno mutacijų paplitimą tarp skirtinguose Lietuvos etnokultūriniuose regionuose gyvenančių savanorių kraujo donorų nustatyta, kad c.845G>A mutacijos dažnis statistiškai patikimai buvo dažnesnis Žemaitijoje.
Wilson’s disease (WD) and HFE-hemochromatosis are monogenic rare diseases inherited following Mendel’s laws. These diseases are caused by ATP7B or HFE gene mutations, which cause life-threatening chronic diseases. This study analyzed gene mutations in patients with metabolic liver diseases – WD and HFE–hemochromatosis, the frequency of such mutations, the phenotypic characteristics of these diseases, and the frequency of the most common mutations in the alleles of the HFE gene in the population of Lithuanian volunteer blood donors. The study showed that the ATP7B gene mutation c.3207C>A (p.His1069Gln), which is characteristic of the populations of Central and Eastern Europe, was also most common in Lithuania. The study confirmed that molecular genetic diagnostics was the most sensitive technique in detecting WD. Other clinical laboratory diagnostic techniques demonstrated lower sensitivity. The examination of Lithuanian volunteer blood donors showed that the frequency of HFE–hemochromatosis mutations c.845G>A (p.Cys282Tyr) and c.187C>G (p.His63Asp) was closest to that in Poland and other Eastern and Central European countries. The risk of developing HFE-hemochromatosis among Lithuanian volunteer blood donors with genotype c.[845G>A]; [845G>A] (0.1% of the subjects) or c.[845G>A];[187C>G] (1.2% of the subjects) was 1.3%. The analysis of the prevalence of HFE gene mutations among Lithuanian volunteer blood donors from different ethno-cultural regions of Lithuania showed that... [to full text]
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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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HOFFMAN-GLEMANE, HEDOUIN SABINE. "Hemochromatose idiopathique diagnostiquee au decours d'une yersiniose." Amiens, 1989. http://www.theses.fr/1989AMIEM021.

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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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LOPEZ, JEAN-PHILIPPE. "Etude comparative des parametres biologiques et morphologiques au cours de l'evolution d'une hemochromatose genetique." Lille 2, 1994. http://www.theses.fr/1994LIL2M141.

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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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LEFEBVRE, DENIS-POL. "Hemochromatose et chondrocalcinose : a propos de 3 cas cliniques." Reims, 1989. http://www.theses.fr/1989REIMM083.

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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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Abstract:
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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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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Books on the topic "Hemochromatosi"

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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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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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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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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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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 "Hemochromatosi"

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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 "Hemochromatosi"

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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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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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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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Aslan, Mehmet Tahir, Anita Mathew, Ferit Akova, Raghu Metpally, David J. Carey, Heinric Williams, Marc S. Williams, et al. "Abstract 5222: Decoding >30 thousand individuals to analyze the most common genetic disorder: Hereditary hemochromatosis (HH)." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-5222.

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Ristic, Bojana, Sathish Sivaprakasam, Rao Kottapalli, Abdul Hamood, and Vadivel Ganapathy. "Abstract 1479: Bacterial dysbiosis in the mouse model of hemochromatosis: Increased risk of colitis and colitis-associated colon cancer." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1479.

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Ristic, Bojana, Sathish Sivaprakasam, Rao Kottapalli, Abdul Hamood, and Vadivel Ganapathy. "Abstract 1479: Bacterial dysbiosis in the mouse model of hemochromatosis: Increased risk of colitis and colitis-associated colon cancer." In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1479.

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Heilmeier, U. R., A. J. Burghard, P. Kapoor, R. E. Voll, and S. Finzel. "FRI0596 Feasibility of joint structural analysis in hemochromatosis hand arthropathy using high-resolution peripheral quantitative computed tomography – first results and clinical correlations." In Annual European Congress of Rheumatology, EULAR 2018, Amsterdam, 13–16 June 2018. BMJ Publishing Group Ltd and European League Against Rheumatism, 2018. http://dx.doi.org/10.1136/annrheumdis-2018-eular.4903.

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Reports on the topic "Hemochromatosi"

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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