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Brissot, Pierre, and Frédéric de Bels. "Current Approaches to the Management of Hemochromatosis." Hematology 2006, no. 1 (January 1, 2006): 36–41. http://dx.doi.org/10.1182/asheducation.v2006.1.36.0010036.
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The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly based on 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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Brissot, Pierre, and Frédéric de Bels. "Current Approaches to the Management of Hemochromatosis." Hematology 2006, no. 1 (January 1, 2006): 36–41. http://dx.doi.org/10.1182/asheducation-2006.1.36.
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Abstract The term hemochromatosis encompasses at least four types of genetic iron overload conditions, most of them recently distinguished from one another as a result of the identification of a series of genes related to iron metabolism. At least three of these entities (HFE hemochromatosis, juvenile hemochromatosis and transferrin receptor 2 hemochromatosis) involve systemic hepcidin deficiency as a key pathogenetic factor. Major advances in the management of hemochromatosis influence the diagnostic approach to the disease, with the development of an overall non invasive strategy, mainly 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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Ponsioen, Cyriel Y., Pieter C. F. Stokkers, Ann R. vd Horst, Guido N. J. Tytgat, and Sander J. H. van Deventer. "A patient with hereditary hemochromatosis, ulcerative colitis, and primary sclerosing cholangitis: genetic aspects." European Journal of Internal Medicine 12, no. 6 (December 2001): 518–21. http://dx.doi.org/10.1016/s0953-6205(01)00179-0.
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Loréal, Olivier, Thibault Cavey, François Robin, Moussa Kenawi, Pascal Guggenbuhl, and Pierre Brissot. "Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects." Pharmaceuticals 11, no. 4 (November 26, 2018): 131. http://dx.doi.org/10.3390/ph11040131.
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Genetic hemochromatosis is an iron overload disease that is mainly related to the C282Y mutation in the HFE gene. This gene controls the expression of hepcidin, a peptide secreted in plasma by the liver and regulates systemic iron distribution. Homozygous C282Y mutation induces hepcidin deficiency, leading to increased circulating transferrin saturation, and ultimately, iron accumulation in organs such as the liver, pancreas, heart, and bone. Iron in excess may induce or favor the development of complications such as cirrhosis, liver cancer, diabetes, heart failure, hypogonadism, but also complaints such as asthenia and disabling arthritis. Iron depletive treatment mainly consists of venesections that permit the removal of iron contained in red blood cells and the subsequent mobilization of stored iron in order to synthesize hemoglobin for new erythrocytes. It is highly efficient in removing excess iron and preventing most of the complications associated with excess iron in the body. However, this treatment does not target the biological mechanisms involved in the iron metabolism disturbance. New treatments based on the increase of hepcidin levels, by using hepcidin mimetics or inducers, or inhibitors of the iron export activity of ferroportin protein that is the target of hepcidin, if devoid of significant secondary effects, should be useful to better control iron parameters and symptoms, such as arthritis.
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Alper, Joseph S. "Does the ADA Provide Protection Against Discrimination on the Basis of Genotype?" Journal of Law, Medicine & Ethics 23, no. 2 (1995): 167–72. http://dx.doi.org/10.1111/j.1748-720x.1995.tb01346.x.
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As a consequence of the problems caused by genetic discrimination, federal and state law makers are being pressured to pass a legislative remedy. A primary question is whether the Americans with Disabilities Act of 1990 (ADA) applies to (1) individuals with a potentially disabling genetic disorder who are pre-symptomatic or asymptomatic and may never become ill and to (2) healthy individuals who are carriers of genetic conditions. At present, this question has relevance principally for individuals with the genotype for single gene disorders, like Huntington disease and hemochromatosis, and to asymptomatic carriers of single gene disorders such as cystic fibrosis. Although many such single gene conditions exist, the total incidence of these conditions in the U.S. population is less than 0.4 percent. However, the question concerning the applicability of the ADA will become increasingly important because genetic tests will almost certainly be developed in the near future for common multifactorial diseases like diabetes, heart disease, and certain forms of cancer.
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Toudjarska, Ivanka, Zuhua Cai, Tim Racie, Stuart Milstein, Brian R. Bettencourt, Julia Hettinger, Dinah WY Sah, Akshay Vaishnaw, and David Bumcrot. "RNAi-Mediated Inhibition of Tmprss6 Elevates Hamp1 Expression and Reduces Serum Iron Levels in Mice." Blood 118, no. 21 (November 18, 2011): 1045. http://dx.doi.org/10.1182/blood.v118.21.1045.1045.
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Abstract Abstract 1045 The liver hormone Hepcidin (encoded by Hamp1) regulates serum iron levels by controlling the efflux of iron from intestinal enterocytes and macrophages. Maintaining sufficient iron levels to support erythropoiesis while preventing iron overload requires tight control of Hepcidin expression. Transcription of Hamp1 in hepatocytes is stimulated by high serum iron levels, via Transferrin Receptor signaling, as well as by activation of the BMP/SMAD pathway. The membrane serine protease Matriptase-2 (encoded by Tmprss6) inhibits BMP induced Hamp1 induction through the regulation of the BMP co-receptor, Hemojuvelin. In humans, loss of function mutations in TMPRSS6 lead to elevated Hepcidin levels resulting in iron-resistant iron-deficiency anemia (IRIDA). In diseases associated with iron overload, such as Thalassemia intermedia (TI) and Familial Hemochromatosis (FH), Hepcidin levels are low despite elevated serum iron concentrations. Studies in murine models of TI and FH have shown that elevating Hepcidin levels by genetic inactivation of Tmprss6 can prevent iron overload and correct aspects of the disease phenotype. Therefore, therapeutic strategies aimed at specifically inhibiting Tmprss6 expression could prove efficacious in these, and other, iron overloading diseases. Here we show that systemic administration of a potent lipid nanoparticle (LNP) formulated siRNA directed against Tmprss6 leads to durable inhibition of Tmprss6 mRNA in the mouse liver, with concomitant elevation of Hamp1 expression. This leads to significant decreases in serum iron concentration and Transferrin saturation, along with changes in hematologic parameters consistent with iron restriction. Further testing in mouse genetic models of TI and FH will support the rationale for developing LNP formulated Tmprss6 siRNA as a novel therapeutic modality. Disclosures: Toudjarska: Alnylam Pharmaceuticals, Inc.: Employment. Cai:Alnylam Pharmaceuticals, Inc.: Employment. Racie:Alnylam Pharmaceuticals, Inc.: Employment. Milstein:Alnylam Pharmaceuticals, Inc.: Employment. Bettencourt:Alnylam Pharmaceuticals, Inc.: Employment. Hettinger:Alnylam Pharmaceuticals, Inc.: Employment. Sah:Alnylam Pharmaceuticals, Inc.: Employment. Vaishnaw:Alnylam Pharmaceuticals, Inc.: Employment. Bumcrot:Alnylam Pharmaceuticals, Inc.: Employment.
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Milman, Nils Thorm, Frank Vinholt Schioedt, Anders Ellekaer Junker, and Karin Magnussen. "Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect." Gastroenterology Research 12, no. 5 (2019): 221–32. http://dx.doi.org/10.14740/gr1206.
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Schmidt, Paul J., Anoop K. Sendamarai, Ivanka Toudjarska, Tim Racie, Jim S. Butler, Mark D. Fleming, and David Bumcrot. "RNAi-Mediated Inhibition of Tmprss6 Ameliorates Anemia and Secondary Iron Overload in a Mouse Model of β-Thalassemia Intermedia and Decreases Iron Overload in Hfe−/− Mice." Blood 120, no. 21 (November 16, 2012): 1018. http://dx.doi.org/10.1182/blood.v120.21.1018.1018.
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Abstract Abstract 1018 β-Thalassemia intermedia (TI), an inherited hemoglobinopathy caused by partial loss of β-globin synthesis, is characterized by anemia, extramedullary hematopoiesis and ineffective erythropoiesis as well as secondary iron overload. Hereditary hemochromatosis (HH) is most frequently caused by mutations in HFE and is marked by excess uptake of dietary iron with concomitant tissue iron overload. In both diseases, increased iron absorption is due to inappropriately low levels of the liver hormone, hepcidin (encoded by Hamp1). The membrane serine protease Matriptase-2 (encoded by Tmprss6) attenuates BMP-mediated Hamp1 induction by cleaving the BMP co-receptor, hemojuvelin. Previously, it has been shown that elevating Hamp1 expression by genetic inactivation of Tmprss6 reduces disease severity in the Hbbth3/+ mouse model of TI and prevents iron overload in Hfe−/− mice. Therefore, a therapeutic approach comprising specific inhibition of Tmprss6 could prove efficacious in TI and HH. Here we show that systemic administration of a potent lipid nanoparticle (LNP) formulated siRNA directed against Tmprss6 leads to >80% inhibition of Tmprss6 mRNA in the livers of Hbbth3/+ and Hfe−/− mice with concomitant >2-fold elevation in Hamp1 expression. In the TI model, Tmprss6 silencing leads to ∼30% reductions in serum iron and non-heme liver iron. In Hfe−/− mice, serum iron and non-heme liver iron are similarly reduced, and Perls staining of peri-portal iron is diminished. Remarkably, the partial iron restriction induced by Tmprss6 inhibition in Hbbth3/+ mice leads to dramatic improvements in the hematological aspects of the disease phenotype: the severity of the anemia is decreased as evidenced by an approximately 1 g/dL increase in total hemoglobin and a 50% decrease in circulating erythropoietin levels. As in the human disease, Hbbth3/+ mice exhibit the hallmarks of ineffective erythropoiesis including splenomegaly, decreased erythrocyte survival and marked reticulocytosis. Treatment with LNP formulated Tmprss6 siRNA leads to a dramatic 2–3 fold decrease in spleen size, a 3–4 fold decrease in reticulocyte counts and a >7-day increase in RBC half-life. Histological analysis of spleens from Tmprss6 siRNA treated animals demonstrates restoration of normal splenic architecture, as well as a reduction in the number of Tfr1-positive erythrocyte precursors in the spleen. Furthermore, as evidenced by the near normalization of blood smears, the overall quality of erythropoiesis in treated animals is vastly improved. Taken together, these data demonstrate that RNAi-mediated silencing of liver Tmprss6 elevates Hamp1 expression and reduces iron overload in both TI and HH model mice. More significantly, Tmprss6 siRNA treatment ameliorates all aspects of the disease phenotype in the TI mouse model. These results support the development of an RNAi therapeutic targeting TMPRSS6 for the treatment of TI, HH and potentially other disorders characterized by excess iron absorption due to physiologically inappropriately low levels of hepcidin. Disclosures: Racie: Alnylam Pharmaceuticals: Employment. Butler:Alnylam Pharmaceuticals, Inc.: Employment, Equity Ownership. Bumcrot:Alnylam Pharmaceuticals, Inc.: Employment, Equity Ownership.
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Schmidtke, Jörg. "Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening." Genes 13, no. 9 (September 9, 2022): 1622. http://dx.doi.org/10.3390/genes13091622.
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Hereditary hemochromatosis (HH) is a rather frequent, preventable disease because the progressive iron overload affecting many organs can be effectively reduced by phlebotomy. Even before the discovery of the major gene, HFE, in 1996, hemochromatosis was seen as a candidate for population-wide screening programmes. A US Centers of Disease Control and the National Human Genome Research Institute expert panel convened in 1997 to consider genotype-based HH population-wide screening and decided that the scientific evidence available at that time was insufficient and advised against. In spite of a large number of studies performed within the last 25 years, addressing all aspects of HH natural history, health economics, and social acceptability, no professional body worldwide has reverted this decision, and HH remains a life-threatening condition that often goes undetected at a curable stage.
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Picot, Joanna, Jackie Bryant, Keith Cooper, Andy Clegg, Paul Roderick, William Rosenberg, and Christine Patch. "Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals: A Systematic Review." Genetic Testing and Molecular Biomarkers 13, no. 1 (February 2009): 7–14. http://dx.doi.org/10.1089/gtmb.2008.0064.
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McLaren, Christine E., Wen-Pin Chen, Nadine A. Bertalli, Lidija Turkovic, Martin B. Delatycki, Graham G. Giles, Dallas R. English, John L. Hopper, Katrina J. Allen, and Lyle C. Gurrin. "Bivariate Mixture Models of Serum Ferritin and Transferrin Saturation Predict Stable Components Measured 12 Years Apart in a Healthy Australian Population." Blood 118, no. 21 (November 18, 2011): 5281. http://dx.doi.org/10.1182/blood.v118.21.5281.5281.
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Abstract Abstract 5281 Bivariate mixture modeling was used to analyze joint population distributions of transferrin saturation (TS) and serum ferritin concentration (SF) measured in the Hemochromatosis and Iron Overload Screening (HEIRS) Study (McLaren et al.Translational Research 2008 151(2), 97−109). Four components (C1, C2, C3, and C4) were identified with successively age−adjusted increasing means for TS and SF from data contributed by 26,832 African Americans, 12,620 Asians, 12,264 Hispanics, and 43,254 whites. We used data from the Australian “HealthIron” study of genetic and environmental modifiers of hereditary hemochromatosis to validate the mixture model approach for component analysis and to determine whether the component distributions appear to be stable over time or whether an individual's TS and SF values move from one component to another. Between 2004−2006, a sample of participants of northern European descent was selected from the Melbourne Collaborative Cohort Study (n=31,192 (17,951 women) recruited 1990–1994) to participate in the HealthIron study (n=1,438 (783 women)). Of these, 1,052 (579 women) participated in CAPI interviews and clinical examination. We applied the bivariate mixture modeling approach to TS and SF data from HealthIron. Follow−up data were excluded for individuals who were treated after baseline evaluations. The EMMIX program was used to predict component membership for HealthIron participants using the model based on the HEIRS data alone. Component transition probabilities over time were estimated as observed proportions. Analyses were performed separately for baseline and follow−up data. Four components (C1, C2, C3, C4) with successively age−adjusted increasing means for TS and SF, were identified using baseline data from 926 whites (426 men, 500 women) and using follow−up data from 771 whites (341 men, 430 women). At baseline, the largest component, C2, had normal mean TS (28% for women, 35% for men) and SF (139 mg/L for women, 309 μg/L for men), higher than the upper 95% confidence limits for means in analyses of HEIRS data. At follow−up, the largest component, C2, had normal mean TS (29% for women, 33% for men) and SF (124 μg/L for women, 183 μg/L for men) consisting of component proportions 0.64 for women and 0.72 for men. C3 and C4 had progressively higher mean values for TS and SF with progressively lower component proportions. At baseline, C1 had mean TS values of 15% for women (27% for men), and mean SF values of 23 mg/L for women (59 mg/L for men), similar to those found using HEIRS data. At follow−up, C1 had mean TS values of 18% for women and men, and mean SF values of 21 μg/L for women and 20 μg/L for men. Only female C282Y homozygotes for the iron gene, HFE, showed evidence that component transition probabilities shifted significantly over time;19 of 49 (39%) had TS and SF values that were in the same bivariate component at baseline and follow−up (Test of Symmetry, p=0.014). As for analyses of data from the HEIRS Study, a mixture of four components was found in data from HealthIron participants suggesting that the model is transferable from one white population to another, although estimated means within components may differ. The longitudinal aspect of this study illustrates that, with the exception of female C282Y homozygotes, the components of the mixture distributions are largely stable over time. Disclosures: No relevant conflicts of interest to declare.
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McLaren, Christine E., Stela McLachlan, Chad P. Garner, Chris D. Vulpe, Victor R. Gordeuk, John H. Eckfeldt, Paul C. Adams, et al. "Associations Between Single Nucleotide Polymorphisms in Iron-Related Genes and Iron Status in Multiethnic Populations." Blood 118, no. 21 (November 18, 2011): 2105. http://dx.doi.org/10.1182/blood.v118.21.2105.2105.
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Abstract Abstract 2105 The existence of multiple inherited disorders of iron metabolism in man, rodents and other vertebrates suggests genetic contributions to iron deficiency. We hypothesized that common variants in genes involved in iron metabolism may modulate susceptibility or resistance to the development of iron deficiency in humans. To examine the association between single nucleotide polymorphisms (SNPs) in key genes involved in iron metabolism pathways, we previously performed a genome-wide association study using DNA collected from white men aged ≥25 y and women ≥50 y in the Hemochromatosis and Iron Overload Screening (HEIRS) Study with serum ferritin (SF) ≤12 μg/L (cases) and controls (SF >100 μg/L in men, SF >50 μg/L in women). We now report on a multiethnic follow-up association study of HEIRS participants. Candidate SNPs were identified from our GWAS and the scientific literature. Population samples of whites, African Americans, Hispanics, and Asians from the U.S. and Canada were analyzed separately for association between SNPs and case-control status and each of seven quantitative outcomes including serum iron, total iron-binding capacity (TIBC), unsaturated iron-binding capacity (UIBC), transferrin saturation, SF, serum transferrin receptor, and body iron. There were 1084 white (357 cases, 727 controls), 153 Asian (51 cases, 102 controls), 221 African American (77 cases, 144 controls) and 233 of 239 Hispanic individuals (79 cases, 160 controls) that passed quality control. For the African-American and Hispanic samples, ancestry proportions were estimated based on genotypes of ancestry informative markers. Regression analysis was used to examine the association between case-control status and quantitative serum iron measures and 1134, 1115, 1113 and 1134 SNP genotypes in the white, African-American, Hispanic, and Asian population samples, respectively. Model predictors included age, sex, the estimated ancestry proportion (for African American and Hispanic only), genotype, and measured covariates that showed nominally significant associations with the outcome. Three chromosomal regions showed evidence of association across multiple populations, including SNPs in the TF gene on chromosome 3q22, the TMPRSS6 gene on chromosome 22q12, and loci on chromosome 18q21. SNP rs1421312 in TMPRSS6 was associated with serum iron in whites (p=4.7×10−7) and was replicated in African Americans (p=0.0012).Twenty SNPs in the TF gene region were significantly associated with TIBC in the white sample (p<4.4×10−5); six SNPs were replicated in other ethnicities (p< 0.01). SNP rs10904850 in the CUBN gene on 10p13 was significantly associated with serum iron in the African-American sample (P=1.0×10−5). Mutations in the TMPRSS6 gene have been implicated in iron-refractory iron deficiency anemia through linkage studies. We found a novel SNP in TMPRSS6 that was associated with serum iron in whites and replicated in African Americans, suggesting a role for this SNP in increasing the risk of iron deficiency in affected persons. Our results confirm known associations with iron measures and give evidence of their role in different ethnic groups, a unique aspect of this study, suggesting origins in a common founder. Disclosures: No relevant conflicts of interest to declare.
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Ben Tekaya, A., B. D. Siwar, S. Bouden, O. Saidane, R. Tekaya, I. Mahmoud, and L. Abdelmoula. "AB0190 LIVER INVOLVEMENT IN RHEUMATOID ARTHRITIS." Annals of the Rheumatic Diseases 80, Suppl 1 (May 19, 2021): 1119.2–1119. http://dx.doi.org/10.1136/annrheumdis-2021-eular.4179.
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Background:Rheumatoid arthritis (RA) can be associated to extra-articular manifestations and comorbidities, including hepatic disturbances. It can be related to an underlying viral, metabolic or immune disease, or to a medical treatment toxicity [1].Objectives:We aim to study liver involvement in a group of RA patients.Methods:We performed a cross sectional study in 249 RA patients responding to the ACR/EULAR 2010 criteria for RA diagnosis. Hepatic enzymes, B and C hepatitis viruses screening tests, abdominal ultrasonography, biliary tract MRIs, fibrotests and fibroscans if available were collected and analysed.Results:Two hundred and forty-nine patients were included with 83.8% of women. The mean age was 59±11.67 years. The mean age at diagnosis was 47±14.9 years with a mean disease evolution of 11±8.83 years.The mean disease activity (DAS28) was 4,66 with levels ranging from 0.12 to 7.78.Liver abnormalities were found in 68 patients (27.3%).Viral disease represented 32.3% of liver abnormalities and was found in 8.8% of the total number of patients. Positive anti-HBc antibodies with negative HBs antigen were found in 8.4% of the patients, no viral reactivation with conventional or biological disease-modifying anti-rheumatic drugs was noted.Besides, 4 of the 249 patients had positive HCV antibodies tests; one of them had a reactivation of a hepatitis C infection after treatment with leflunomide, one had a chronic C hepatitis with chronic liver disease, one had an old B and C hepatitis infection and the last one had an associated liver nodule for which an exploration was triggered. One patient had post hepatitis C cirrhosis associated with a hepatocellular carcinoma treated with surgery and an association of ledipasvir and sofosbuvir with a negative serology.Medical treatment toxicity was responsible for 25% of liver abnormalities. Paracetamol caused both hepatic cholestasis and cytolysis in 5 patients, and isolated cholestasis in 2 patients. NSAIDs caused both hepatic cholestasis and cytolysis in 2 patients, and isolated cholestasis in one patient. Methotrexate was responsible for isolated cholestasis in 2 patients, isolated hepatic cytolysis in one patient and both cholestasis and cytolysis in one patient. An interaction between methotrexate and fluconazole caused one case of hepatic cholestasis and cytolysis. Treatment of a latent tuberculosis with isoniazid and rifampicin was responsible for cholestasis in one patient.Immune hepatic disease was present in 3 patients: 2 patients had a primary biliary cholangitis that manifested with a cholestasis and one patient had an auto-immune hepatitis that manifested with cytolysis and cholestasis.The prevalence of hepatic steatosis was of 4.8%, assessed with ultrasonography or microscopic examination of a liver biopsy. Hepatic enzymes test was normal in 2%, showed isolated cholestasis in 2% and both cholestasis and hepatic cytolysis in 0.8% of the patients.One patient had a secondary hemochromatosis to multiple transfusions for sickle cell anaemia, causing cholestasis and cytolysis.No aetiology was found for hepatic cholestasis and/or cytolysis in 7.2% of patients.Conclusion:Liver involvement in RA is common and has different aspects. A careful monitoring of liver enzymes tests is crucial to detect hepatic disease and prevent its evolution to a chronic liver disease and cirrhosis. On the other hand, screening for viral hepatitis B and C is necessary to prevent an aggravation of a chronic infection and a reactivation of a latent one [2].References:[1]Sellami M, Saidane O, Mahmoud I, Tekaya AB, Tekaya R, Abdelmoula L. Etiological Features of Liver Involvement in Rheumatoid Arthritis. Curr Rheumatol Rev. 2020;16(4):332-6.[2]Karadağ Ö, Kaşifoğlu T, Özer B, Kaymakoğlu S, Kuş Y, İnanç M, et al. Viral hepatitis screening guideline before biological drug use in rheumatic patients. Eur J Rheumatol. mars 2016;3(1):25-8.Disclosure of Interests:None declared
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Wu, Liyan, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, et al. "Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China." Orphanet Journal of Rare Diseases 16, no. 1 (September 28, 2021). http://dx.doi.org/10.1186/s13023-021-02020-y.
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Abstract Background Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. Less is known about the clinical and laboratory characteristics of non-HFE related HH in Asian population. We aimed to explore the relationship between genotype and clinical phenotype in Chinese patients with non-HFE related hereditary hemochromatosis. Methods Peripheral blood samples and clinical data of patients with primary iron overload were collected from the China Registry of Genetic/Metabolic Liver Diseases. Sanger sequencing was performed in cases with primary iron overload, for 5 known HH related genes (HFE, HJV, HAMP, TFR2 and SLC40A1) and 2 novel iron homeostasis-related genes (DENND3 and SUGP2). The correlation of genotype and clinical phenotype in these patients was analyzed. Results Of the 32 patients with primary iron overload (23 were males and 9 were females), non-HFE variants were detected in 31 (31/32, 97%), including 8 pathogenic variants in HJV, 7 pathogenic variants in SLC40A1, 8 likely pathogenic variants in SUGP2 and 5 likely pathogenic variants in DENND3 cases. Among these 31 cases, 4 cases harbored homozygous variants, 2 cases harbored homozygous + heterozygous variants, 19 cases harbored heterozygous or combined heterozygous variants, and 6 cases harbored no any damaging variants. None of investigated cases carried damaging HAMP and TFR2 variants were found. 8 cases were classified as type 2A HH and 6 cases as type 4 HH, 10 cases as non-classical genotype, and 6 cases had no pathogenic variants from 31 cases. During the statistical analysis, we excluded one case (SLC40A1 IVS3 + 10delGTT + SUGP2 p. R639Q(homo)) with difficulty in grouping due to combined damaging variants. Cases with type 2A HH have an earlier age at diagnosis (p = 0.007). The iron index of cases in type 2A HH and type 4 HH was higher than that in other groups (p = 0.01). Arthropathy was relatively rare in all groups. None of cases with type 2A HH developed cirrhosis. Cirrhosis and diabetes are more prevalent in type 4 HH. The incidence of cirrhosis (p = 0.011), cardiac involvement (p = 0.042), diabetes (p = 0.035) and hypogonadism (p = 0.020) was statistically significant in the four groups. However, due to the limited sample size, the pairwise comparison showed no significant difference. Conclusions This is the first comprehensive analysis about the gene variant spectrum and phenotypic aspects of non-HFE HH in China. The results will be useful to the identification, diagnosis and management of HH in China.
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"Molecular and cellular aspects of liver disease in genetic hemochromatosis . Dept. of Internal Medicine, University of Modena, Italy1. Dept. of Medicine, Huddinge Hospital, Sweden2 and Dept. of Internal Medicine, Karolinska Hospital, Sweden3." Hepatology 22, no. 4 (October 1995): A371. http://dx.doi.org/10.1016/0270-9139(95)95204-7.
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Khalid, Sidra. "Nature vs nurture in Food selection; A debate!" Pakistan BioMedical Journal, June 30, 2022, 01. http://dx.doi.org/10.54393/pbmj.v5i6.641.
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When it comes to dietary and nutritional preferences, no discussion of human nutrition is validated without addressing the underlying genetic composition. Genetic differences might also shadow someone’s food likes and dislikes, enrooted to food preferences in nutritional behavior. Among the food bloggers its always been a point of debate that among the ‘Nature versus nurture’ which is more powerful. Recent literature states that scientist are still tracing this ancient concept touching temperament to exercise and from tendencies to eat. Numerous factors play an important role in our food selection and affect what we eat, however current literature have displayed that possibly the DNA plays a bigger role in a person’s diet and food choices than we expect.
‘Our DNA affects what we eat’. The genetic code can play a significant role in the alteration of tendencies towards food, involving gluten sensibility, taste choices, and lactose intolerance, among others. Additionally, multiple notable scientists and researchers have associated specific genetic pointers with specific characteristics. Such as recent studies linked a variant of a genes for bitter sense of taste stimuli; responsible for either one enjoy drinking coffee or not. The individual encompassing this kind of a genetic marker observe an increased bitter flavor while showcasing a greater propensity to drink more coffee. Among the factors that impact food preferences and selections, the surrounding society and the availability of specific type of foods play a major part in choosing a certain food material. Upon determination of numerous associated genetic markers, the role of heredity in particular eating patterns of human beings has been disclosed. In the Central Nervous System (CNS), the genetic disparity can potentially have an impact in the degree of satiety, observation of taste, and numerous other elements that have frequent effect on food intake. In the present day, no such authenticated data or information is available for human beings in this particular range. Similarly, the nutrient absorption in human beings could also be varied or impacted. For instance, there is an elevated level of iron absorption in hemochromatosis with genetically associated mitigation of gastric intrinsic factor, eventually resulting in pernicious anemia and faulty and imperfect vitamin B12 absorption. Moreover, the innate variances in the functionality of enzymes and multiple different active proteins add to differences in nutritional specifications and preferences, leading to variable relation of specific nutrients with genetically dependent biochemical and metabolic facets. Whereas, this innate variation is relatively altered from epigenetic possibilities in numerous life stages pertaining to growth, old age, and gestation.
In all the aspects of food selection, scientists have also taken into consideration, the role of cultural and ethnical elements. The families or relatives linked to a similar ancestor are more likely to show a bit identical genetic makeup. Ultimately, an ethnic group can be described as a comprehensive family having somewhat similar reflections. Subsequently, the uniformities of genetically dependent behaviors and disorders will be displaying a difference among different races, even among various ethnic groups of similar race. In consideration of the possibility of a racial group present in a distinct environment doesn’t really demonstrate the role of multiple genes in the ethnic or racial difference of certain traits. Furthermore, the distinction among various genetic and environmental factors can be made a lot stronger if the presence of the genes can be validated
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Picot, Joanna, Jackie Bryant, Keith Cooper, Andy Clegg, Paul Roderick, William Rosenberg, and Christine Patch. "Psychosocial Aspects of DNA Testing for Hereditary Hemochromatosis in At-Risk Individuals: A Systematic Review." Genetic Testing, January 8, 2009, 090108090224061. http://dx.doi.org/10.1089/gte.2008.0064.
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Ferrao, Kevin, Najma Ali, and Kosha J. Mehta. "Iron and iron-related proteins in alcohol consumers: cellular and clinical aspects." Journal of Molecular Medicine, October 10, 2022. http://dx.doi.org/10.1007/s00109-022-02254-8.
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AbstractAlcohol-associated liver disease (ALD) is one of the most common chronic liver diseases. Its pathological spectrum includes the overlapping stages of hepatic steatosis/steatohepatitis that can progress to liver fibrosis and cirrhosis; both are risk factors for hepatocellular carcinoma. Moreover, ALD diagnosis and management pose several challenges. The early pathological stages are reversible by alcohol abstinence, but these early stages are often asymptomatic, and currently, there is no specific laboratory biomarker or diagnostic test that can confirm ALD etiology. Alcohol consumers frequently show dysregulation of iron and iron-related proteins. Examination of iron-related parameters in this group may aid in early disease diagnosis and better prognosis and management. For this, a coherent overview of the status of iron and iron-related proteins in alcohol consumers is essential. Therefore, here, we collated and reviewed the alcohol-induced alterations in iron and iron-related proteins. Reported observations include unaltered, increased, or decreased levels of hemoglobin and serum iron, increments in intestinal iron absorption (facilitated via upregulations of duodenal divalent metal transporter-1 and ferroportin), serum ferritin and carbohydrate-deficient transferrin, decrements in serum hepcidin, decreased or unaltered levels of transferrin, increased or unaltered levels of transferrin saturation, and unaltered levels of soluble transferrin receptor. Laboratory values of iron and iron-related proteins in alcohol consumers are provided for reference. The causes and mechanisms underlying these alcohol-induced alterations in iron parameters and anemia in ALD are explained. Notably, alcohol consumption by hemochromatosis (iron overload) patients worsens disease severity due to the synergistic effects of excess iron and alcohol.