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Articles de revues sur le sujet « Hemochromatosi »

Auteur : Grafiati
Publié le 9 mars 2023
Mis à jour le 10 mars 2023

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1

Mažeikaitė, Ieva, Dalius Banionis, Sigitas Laima et Algimantas Jasulaitis. « Hemochromatozės diagnostika ir autopsijos reikšmė. Klinikinis atvejis ». Sveikatos mokslai 26, no 2 (30 avril 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 et Martina U. Muckenthaler. « Low-Iron Diet and Chelation Therapy Rescue Severe Atherosclerosis Associated with High Circulating Iron Levels ». Blood 128, no 22 (2 décembre 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 et Marvin Cooper. « Iron Studies in Hemochromatosis During Pregnancy. » Blood 114, no 22 (20 novembre 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 (16 novembre 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 et 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 (9 juillet 1997) : 156–62. http://dx.doi.org/10.1007/s003930050031.

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Oh, Chang-Kyu, et Yuseok Moon. « Dietary and Sentinel Factors Leading to Hemochromatosis ». Nutrients 11, no 5 (10 mai 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, et 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., et Lori A. Erickson. « Hemochromatosis ». Mayo Clinic Proceedings 97, no 2 (février 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 (22 octobre 2009) : 325–28. http://dx.doi.org/10.1177/8756479309344625.

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Ashinsky, Douglas. « Hemochromatosis ». Postgraduate Medicine 91, no 4 (mars 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 (14 août 2009) : 461–71. http://dx.doi.org/10.1111/j.1699-0463.1944.tb04959.x.

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Ramrakhiani, Sanjay, et Bruce R. Bacon. « Hemochromatosis ». Journal of Clinical Gastroenterology 27, no 1 (juillet 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 (12 décembre 1996) : 1815. http://dx.doi.org/10.1056/nejm199612123352406.

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

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

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Powell, Lawrie W., et Thomas R. Yapp. « HEMOCHROMATOSIS ». Clinics in Liver Disease 4, no 1 (février 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 (novembre 2004) : 735–53. http://dx.doi.org/10.1016/j.cld.2004.06.002.

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Uba, Angela, et James Litynsky. « HEMOCHROMATOSIS ». Southern Medical Journal 92, Supplement (novembre 1999) : S32. http://dx.doi.org/10.1097/00007611-199911001-00064.

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Regan, Elizabeth Neville. « Hemochromatosis ». Nurse Practitioner 34, no 6 (juin 2009) : 25–29. http://dx.doi.org/10.1097/01.npr.0000352285.81981.d5.

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DeSOUZA, PATRICIA. « Hemochromatosis ». Gastroenterology Nursing 21, no 5 (septembre 1998) : 210–12. http://dx.doi.org/10.1097/00001610-199809000-00004.

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Bacon, Bruce R. « Hemochromatosis ». Current Treatment Options in Gastroenterology 2, no 1 (janvier 1999) : 58–60. http://dx.doi.org/10.1007/s11938-999-0019-0.

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Crosby, William H. « Hemochromatosis ». Archives of Internal Medicine 146, no 6 (1 juin 1986) : 1209. http://dx.doi.org/10.1001/archinte.1986.00360180229034.

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Crosby, William H. « Hemochromatosis ». Archives of Internal Medicine 146, no 10 (1 octobre 1986) : 1910. http://dx.doi.org/10.1001/archinte.1986.00360220054009.

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Olynyk, John K., et Grant A. Ramm. « Hemochromatosis ». New England Journal of Medicine 387, no 23 (8 décembre 2022) : 2159–70. http://dx.doi.org/10.1056/nejmra2119758.

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Wallace, Daniel F., Palle Pedersen, Jeannette L. Dixon, Peter Stephenson, Jeffrey W. Searle, Lawrie W. Powell et V. Nathan Subramaniam. « Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis ». Blood 100, no 2 (15 juillet 2002) : 692–94. http://dx.doi.org/10.1182/blood.v100.2.692.

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Abstract Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene. Less common non-HFE–related forms of hemochromatosis have been reported and are caused by mutations in the transferrin receptor 2 gene and in a gene localized to chromosome 1q. Autosomal dominant forms of hemochromatosis have also been described. Recently, 2 mutations in theferroportin1 gene, which encodes the iron transport protein ferroportin1, have been implicated in families with autosomal dominant hemochromatosis from the Netherlands and Italy. We report the finding of a novel mutation (V162del) in ferroportin1 in an Australian family with autosomal dominant hemochromatosis. We propose that this mutation disrupts the function of the ferroportin1 protein, leading to impaired iron homeostasis and iron overload.
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Mishra, Rabindra Kumar. « Molecular Genetic of Hemochromatosis Disease using Bioinformatics Tools ». Bioscience Biotechnology Research Communications 15, no 3 (30 septembre 2022) : 419–23. http://dx.doi.org/10.21786/bbrc/15.3.7.

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Hemochromatosis is caused by p.Cys282Tyr mutations in HFE. This study’s objective was to find causal or disease-related variations in people with erythrocytosis of unknown origin who came from a family with clear blood markers and other indicators of congenital erythrocytosis. This research aims to create a new hemochromatosis risk prediction prototype and evaluate psychographic, clinical, and genomic data to improve predictive model performance. In this review, a conditional characterization of primary iron overload, secondary iron overload, and hemochromatosis medical history is established, as well as an analysis of the drug molecules used to treat hemochromatosis. This paper provides Hemochromatosis Gene brand and its operation.
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Beaton, Melanie D., et Paul C. Adams. « The Myths and Realities of Hemochromatosis ». Canadian Journal of Gastroenterology 21, no 2 (2007) : 101–4. http://dx.doi.org/10.1155/2007/619401.

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Hemochromatosis is a common genetic condition and yet there are still a number of misperceptions surrounding the diagnosis and management of this condition. Hemochromatosis affects both men and women. Typical patients do not have alcoholism or viral hepatitis, and often have normal liver enzymes. Clinical expression is highly variable. Genetic testing is widely available and particularly useful in family studies. Hemochromatosis can be readily diagnosed and treated. The purpose of the present review is to address the medical myths and misconceptions of hemochromatosis.
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Brissot, Pierre, et Frédéric de Bels. « Current Approaches to the Management of Hemochromatosis ». Hematology 2006, no 1 (1 janvier 2006) : 36–41. http://dx.doi.org/10.1182/asheducation.v2006.1.36.0010036.

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The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly based on clinical, biological (iron parameters and genetic testing), and imaging (especially magnetic resonance imaging) data. Therapeutic management remains, on the curative side, dominated by phlebotomy (venesection), practical aspects of which have been recently revisited by the Guidelines Department of the French “Haute Autorité de Santé.” However, innovative treatment approaches, based on the improved pathophysiological understanding of these diseases and the progress in iron chelation therapy, are emerging. Preventive therapy, focused on family screening, remains a key part of the management of hemochromatosis.
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Mulyantari, Kadek, A. A. Wiradewi Lestari, A. A. N. Subawa, Tjokorda Gede Oka et Sudewa Djelantik. « PENDERITA DENGAN HEMOKROMATOSIS PRIMER ». INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY 18, no 2 (17 mars 2018) : 141. http://dx.doi.org/10.24293/ijcpml.v18i2.1014.

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Primary Hemochromatosis is a hereditary disease that occurs predominantly in man. Among men, clinical signs and symptomsfrequently appears on 40 years until more than 60 years of age. Meanwhile, the signs and symptoms among women appear on 50 yearsof age or after menopause. It is a very rare case in children or young adult. Secondary hemochromatosis can be differentiated fromprimary hemochromatosis based on existence of other underlying disease and secondary hemochromatosis often occurs in patient withmultiple blood transfusions. The diagnosis of primary hemochromatosis is confirmed by chromosomal test and liver biopsy to confirmthe liver damage caused by excessive iron accumulation. The main treatment of primary hemochromatosis is phlebotomy. The purposeof this method is to remove overload iron in body. In this case, the patient was man, unmarried, 51 years old, Australian. Four yearsago, he had complained about arthropathies, chronic asthenia, depression, decreased of concentration and sexual desire. Laboratoryevaluation revealed Ferritin level 2126 ug/L and transferrin saturation always more than 99%. Liver function tests also increasedsignificantly. Some of his family’s members have the same disease as he has. He was diagnosed as primary hemochromatosis and hadperformed phlebotomy routinely. After phlebotomy has done, he recovered based on clinical and laboratorial findings.
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Lok, Chun Yu, Alison T. Merryweather-Clarke, Vip Viprakasit, Yingyong Chinthammitr, Somdet Srichairatanakool, Chanin Limwongse, David Oleesky et al. « Iron overload in the Asian community ». Blood 114, no 1 (2 juillet 2009) : 20–25. http://dx.doi.org/10.1182/blood-2009-01-199109.

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Abstract Hereditary hemochromatosis is an iron overload disorder that can lead to the impairment of multiple organs and is caused by mutations in one or more different genes. Type 1 hemochromatosis is the most common form of the disease and results from mutations in the HFE gene. Juvenile hemochromatosis (JH) is the most severe form, usually caused by mutations in hemojuvelin (HJV) or hepcidin (HAMP). The autosomal dominant form of the disease, type 4, is due to mutations in the SLC40A1 gene, which encodes for ferroportin (FPN). Hereditary hemochromatosis is commonly found in populations of European origin. By contrast, hemochromatosis in Asia is rare and less well understood and can be masked by the presence of iron deficiency and secondary iron overload from thalassemia. Here, we provide a comprehensive report of hemochromatosis in a group of patients of Asian origin. We have identified novel mutations in HJV, HAMP, and SLC40A1 in countries not normally associated with hereditary hemochromatosis (Pakistan, Bangladesh, Sri Lanka, and Thailand). Our family studies show a high degree of consanguinity, highlighting the increased risk of iron overload in many countries of the developing world and in countries in which there are large immigrant populations from these regions.
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Brissot, Pierre, et Frédéric de Bels. « Current Approaches to the Management of Hemochromatosis ». Hematology 2006, no 1 (1 janvier 2006) : 36–41. http://dx.doi.org/10.1182/asheducation-2006.1.36.

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Abstract The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly based on clinical, biological (iron parameters and genetic testing), and imaging (especially magnetic resonance imaging) data. Therapeutic management remains, on the curative side, dominated by phlebotomy (venesection), practical aspects of which have been recently revisited by the Guidelines Department of the French “Haute Autorité de Santé.” However, innovative treatment approaches, based on the improved pathophysiological understanding of these diseases and the progress in iron chelation therapy, are emerging. Preventive therapy, focused on family screening, remains a key part of the management of hemochromatosis.
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Cherfane, Cynthia, Pauline Lee, Leana Guerin et Kyle Brown. « A Late Presentation of a Fatal Disease : Juvenile Hemochromatosis ». Case Reports in Medicine 2013 (2013) : 1–5. http://dx.doi.org/10.1155/2013/875093.

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Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been investigated. The patient died of intractable heart failure two months after the initial presentation. Juvenile hemochromatosis should be suspected in a young patient with endocrine or cardiac manifestations. Early diagnosis is crucial since phlebotomy can improve the prognosis and delay or prevent progression to heart failure and cirrhosis.
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Al-Tikrity, Mustafa A., et Mohamed A. Yassin. « Discrepancy between Serum Ferritin and Liver Iron Concentration in a Patient with Hereditary Hemochromatosis – The Value of T2* MRI ». Case Reports in Oncology 13, no 2 (24 juin 2020) : 712–15. http://dx.doi.org/10.1159/000507756.

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Primary hemochromatosis is an inherited disorder, and the homeostatic iron regulator (HFE) gene C282Y mutation is a common cause of hemochromatosis in Europe. We are reporting a case of a 56-year-old female known to have hemochromatosis with the HFE gene C282Y mutation with a serum ferritin level of 482 μg/L who underwent heart and liver T2* MRI which showed no evidence of iron overload – neither in the heart nor in the liver. This indicates that there is a discrepancy between serum ferritin and liver iron concentration by MRI and the superiority of T2* MRI in diagnosis and follow-up of iron overload in patients with hereditary hemochromatosis.
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Ma, Mang, Edmond A. Ryan et Vincent G. Bain. « The Development of Hemochromatosis after Treatment for Celiac Sprue ». Canadian Journal of Gastroenterology 8, no 6 (1994) : 358–61. http://dx.doi.org/10.1155/1994/128687.

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Celiac sprue is a chronic disease characterized by maldigestion and malabsorption. Whereas many diseases have been reported in association with celiac sprue, hemochromatosis has not. A 62-year-old man with celiac sprue and a history of iron deficiency and osteopenic bone disease who developed hemochromatosis is reported. Liver biopsy showed portal tract fibrosis, early nodule formation and increased hepatic iron storage. The patient developed hemochromatosis with hepatic injury two years after his transferrin saturation became elevated and 10 years after he had been placed on gluten-free diet. Lifelong iron accumulation was prevented by chronic malabsorption of iron but hemochromatosis became manifest when his celiac sprue was treated.
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Besharat, S., E. Alaee et Y. Zahedpasha. « Idiopathic Neonatal Haemochromatosis : A Case Report ». Journal of Nepal Paediatric Society 31, no 3 (20 septembre 2011) : 247–48. http://dx.doi.org/10.3126/jnps.v31i3.4966.

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A case of neonatal hemochromatosis is reported in a premature 35-week infant who presented at birth with coffee ground vomiting and gradual appearance of grayish icter and colorless stool. Neonatal hemochromatosis was confirmed by elevated ferritin levels and extrahepatic siderosis detected in liver biopsy. Key words: Neonatal hemochromatosis; Liver biopsy; Serum ferritin DOI: http://dx.doi.org/10.3126/jnps.v31i3.4966 J Nep Paedtr Soc 2011;31(3): 247-248
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Power, Tara E., et Paul C. Adams. « Hemochromatosis Patients as Voluntary Blood Donors ». Canadian Journal of Gastroenterology 18, no 6 (2004) : 393–96. http://dx.doi.org/10.1155/2004/767529.

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The present study was designed to investigate hemochromatosis patients' suitability as blood donors as well as their perceptions and experience with the current public donation system. Participants were gathered from a list of current hemochromatosis patients (n=120) and members of the Canadian Hemochromatosis Society (n=1000). Of the 1120 surveys mailed out to these groups, 801 surveys were returned completed. The sample respondents had a mean age of 57.44 years (SD=12.73; range 19 to 87 years), and 57% were men. It was found that 20% (160) of the respondents have donated blood since their diagnosis; however, only 12% of the respondents indicated that they use voluntary blood donation as a means of maintaining their iron levels. Forty per cent of the respondents indicated that they had been refused from voluntary donation. Despite the fact that in May 2001 the Canadian Blood Services, in collaboration with the Canadian Hemochromatosis Society, began a promotion campaign to encourage hemochromatosis patients to become voluntary blood donors, the present study found that 15% of the respondents reported having been refused from the voluntary blood donation service due to the diagnosis of hemochromatosis. With respect to quality of life, it was found that individuals who donate blood were generally healthier with respect to physical functioning and bodily pain, however, these findings may indicate that hemochromatosis patients who are healthier are better able to donate at public blood banks, rather than that voluntary blood donation has an effect on the donors' physical functioning over phlebotomy clinic users. These study findings suggest that although there may be other medical factors limiting individuals from donating, hemochromatosis patients are interested in being voluntary blood donors and this potential resource is currently under-used.
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Hernández, Gonzalo, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez et al. « New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis ». Genes 12, no 12 (13 décembre 2021) : 1980. http://dx.doi.org/10.3390/genes12121980.

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Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by mutations in at least five different genes. HFE hemochromatosis is the most common type of hemochromatosis, while non-HFE related hemochromatosis are rare cases. Here, we describe six new patients of non-HFE related HH from five different families. Two families (Family 1 and 2) have novel nonsense mutations in the HFE2 gene have novel nonsense mutations (p.Arg63Ter and Asp36ThrfsTer96). Three families have mutations in the TFR2 gene, one case has one previously unreported mutation (Family A—p.Asp680Tyr) and two cases have known pathogenic mutations (Family B and D—p.Trp781Ter and p.Gln672Ter respectively). Clinical, biochemical, and genetic data are discussed in all these cases. These rare cases of non-HFE related hereditary hemochromatosis highlight the importance of an earlier molecular diagnosis in a specialized center to prevent serious clinical complications.
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Moreno-Risco, María-Belén, Manuel Méndez, María-Isabel Moreno-Carralero, Ana-María López-Moreno, José-Manuel Vagace-Valero et María-José Morán-Jiménez. « Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene ». Case Reports in Pediatrics 2022 (11 avril 2022) : 1–4. http://dx.doi.org/10.1155/2022/7743748.

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Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in HJV and HAMP genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. We aim to raise awareness of juvenile hemochromatosis, especially in families with a positive family history, as early diagnosis and treatment may prevent organ involvement and end-stage disease. The purpose of this study was to identify the gene variant that causes the disease. The genetic study was performed with a targeted gene panel: HFE, HJV, HAMP, TFR2, SLC40A1, FTL, and FTH1. We identified the variant c.309C > G (p.Phe103Leu) in the HJV gene in the homozygous state in the patient.
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Ucler, Rifki, Erdal Kara, Murat Atmaca, Sehmus Olmez, Murat Alay, Yaren Dirik et Aydin Bora. « A Rare Presentation of Transfusional Hemochromatosis : Hypogonadotropic Hypogonadism ». Case Reports in Endocrinology 2015 (2015) : 1–4. http://dx.doi.org/10.1155/2015/493091.

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Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction.β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for maintaining adequate levels of hemoglobin. Hypogonadism is one of the potential complications of hemochromatosis, usually seen in patients with a severe iron overload, and it shows an association with diabetes and cirrhosis in adult patients. We describe a patient with mild transfusional hemochromatosis due toβ-thalassemia major, presenting with central hypogonadism in the absence of cirrhosis or diabetes. Our case showed an atypical presentation with hypogonadotropic hypogonadism without severe hyperferritinemia, cirrhosis, or diabetes. With this case, we aim to raise awareness of hypogonadotropic hypogonadism in patients with intensive transfused thalassemia major even if not severe hemochromatosis so that hypogonadism related complications, such as osteoporosis, anergia, weakness, sexual dysfunction, and infertility, could be more effectively managed in these patients.
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MacIntosh, Donald G., John C. Bear, John Simpson, Terry A. Komusi, William H. Marshall et James A. Barrowman. « Should the Children of Patients with Hemochromatosis be Screened for the Disease ? » Canadian Journal of Gastroenterology 2, no 4 (1988) : 143–46. http://dx.doi.org/10.1155/1988/740830.

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Idiopathic hemochromatosis is an underdiagnosed treatable condition inherited in an autosomal recessive pattern. Since early treatment is of demonstrated value, screening of high risk groups of individuals in a valuable exercise in preventive medicine. Although examination of siblings is always recommended, the frequency of the hemochromatosis gene makes the screening of children of patients with hemochromatosis an important undertaking, as illustrated by the families described in this report.
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Abousherif, Wael, Motahareh Vameghestahbanati et Ahmed Hallak. « Recurrent bilateral superficial vein thrombosis in hereditary hemochromatosis- a case report ». International Journal of Research in Medical Sciences 10, no 8 (27 juillet 2022) : 1766. http://dx.doi.org/10.18203/2320-6012.ijrms20221992.

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We report a rare case of recurrent bilateral superficial vein thrombosis (SVT) in a 45-year-old former smoking male with hereditary hemochromatosis on anticoagulation therapy with unremarkable hypercoagulable workup. This case report adds to the growing evidence that hemochromatosis is one of the rare causes of recurrent SVT, and thrombosis can still occur despite full-dose anticoagulation. Future studies assessing optimal management of the recurrent SVT in hemochromatosis patients are warranted.
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Press, Richard D. « Hereditary Hemochromatosis ». Archives of Pathology & ; Laboratory Medicine 123, no 11 (1 novembre 1999) : 1053–59. http://dx.doi.org/10.5858/1999-123-1053-hh.

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Abstract Objective.—To review the current state-of-the-art regarding the role of iron- and DNA-based testing on the detection, treatment, and prevention of hereditary hemochromatosis (HH), the most common single-gene disorder in white people. Sources.—Review of the medical literature, with particular emphasis on recent reports of the impact of DNA-based testing on the detection of symptomatic and presymptomatic patients with HH. Conclusions.—Hereditary hemochromatosis, a common autosomal recessive iron overload disorder (with a population prevalence of 0.3%–0.8%), is a common cause of preventable liver, heart, joint, and endocrine disease. Since the associated clinical signs and symptoms are nonspecific, an accurate HH diagnosis demands both a high index of suspicion and the direct laboratory demonstration of elevated iron parameters. The substantial public health burden of HH as a common, deadly, detectable, and treatable chronic disease has led the College of American Pathologists to recommend that “systematic screening for hemochromatosis is warranted for all persons over the age of 20 years.” The recent discovery that most HH cases are the result of a single well-conserved homozygous missense mutation (C282Y) within a novel transferrin-receptor binding protein (HFE) has given rise to diagnostic clinical tests for the DNA-based detection of this pathologic mutation. This direct HFE mutation test can now be used not only to confirm the diagnosis of HH in those with symptomatic disease, but also, perhaps more importantly, to detect those with presymptomatic iron overload in whom future disease manifestations may be prevented (with phlebotomy therapy).
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VAN VLIERBERGHE H. « Hemochromatose - hemosiderose ». Tijdschrift voor Geneeskunde 55, no 5 (1 janvier 1999) : 385. http://dx.doi.org/10.2143/tvg.55.5.5000383.

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McDonnell, Sharon M., et David Witte. « Hereditary hemochromatosis ». Postgraduate Medicine 102, no 6 (décembre 1997) : 83–94. http://dx.doi.org/10.3810/pgm.1997.12.378.

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Geller, Stephen A., et Fernando P. F. de Campos. « Hereditary hemochromatosis ». Autopsy and Case Reports 5, no 1 (2015) : 7–10. http://dx.doi.org/10.4322/acr.2014.043.

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Eustace, Stephen J., Nancy D. Baker, Howard H. C. Lan et David Dorfman. « Hemochromatosis Arthropathy ». Radiologic Clinics of North America 34, no 2 (mars 1996) : 441–45. http://dx.doi.org/10.1016/s0033-8389(22)00477-8.

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Hershko, Chaim. « Hemochromatosis redefined ». Blood 139, no 20 (19 mai 2022) : 3001–2. http://dx.doi.org/10.1182/blood.2021014036.

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Prows, Cynthia A. « HEREDITARY HEMOCHROMATOSIS ». Nursing Clinics of North America 35, no 3 (septembre 2000) : 707–17. http://dx.doi.org/10.1016/s0029-6465(22)02512-9.

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Murray, K. F., et K. V. Kowdley. « Neonatal Hemochromatosis ». PEDIATRICS 108, no 4 (1 octobre 2001) : 960–64. http://dx.doi.org/10.1542/peds.108.4.960.

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Olynyk, John K., et Bruce R. Bacon. « Hereditary hemochromatosis ». Postgraduate Medicine 96, no 5 (novembre 1994) : 151–65. http://dx.doi.org/10.1080/00325481.1994.11945914.

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