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    Iron overload cardiomyopathy: from diagnosis to management.
    Curr Opin Cardiol 2018 Mar 14. Epub 2018 Mar 14.
    Advanced Heart Failure and Transplant Unit.
    Purpose Of Review: Iron overload cardiomyopathy (IOC) is an important predictor of prognosis in a significant number of patients with hereditary hemochromatosis and hematologic diseases. Its prevalence is increasing because of improved treatment strategies, which significantly improve life expectancy. We will review diagnosis, treatment, and recent findings in the field. Read More

    Liver Iron Quantification with MR Imaging: A Primer for Radiologists.
    Radiographics 2018 Mar-Apr;38(2):392-412
    From the Department of Radiology (R.L., G.G., M.C., K.N.V., D.O., J.S.B., A.T.) and Service of Hemato-oncology, Department of Medicine (D.S.), Centre Hospitalier de l'Université de Montréal, 1000 rue Saint-Denis, Montréal, QC, Canada H2X 0C2; MR Clinical Science, Philips Healthcare Canada, Markham, ON, Canada (G.G.); Department of Radiology and Advanced Imaging Research Center, University of Texas Southwestern Medical Center, Dallas, Tex (T.Y.); and Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada (A.T.).
    Iron overload is a systemic disorder and is either primary (genetic) or secondary (exogenous iron administration). Primary iron overload is most commonly associated with hereditary hemochromatosis and secondary iron overload with ineffective erythropoiesis (predominantly caused by β-thalassemia major and sickle cell disease) that requires long-term transfusion therapy, leading to transfusional hemosiderosis. Iron overload may lead to liver cirrhosis and hepatocellular carcinoma, in addition to cardiac and endocrine complications. Read More

    Genetic Infiltrative Cardiomyopathies.
    Heart Fail Clin 2018 Apr;14(2):215-224
    Adult Medical Genetics Program, Cardiovascular Institute, University of Colorado Anschutz, 12700 East 19th Avenue, Aurora, CO 80045, USA. Electronic address:
    Infiltrative cardiomyopathies are characterized by abnormal accumulation or deposition of substances in cardiac tissue leading to cardiac dysfunction. These can be inherited, resulting from mutations in specific genes, which engender a diverse array of extracardiac features but overlapping cardiac phenotypes. This article provides an overview of each inherited infiltrative cardiomyopathy, describing the causative genes, the pathologic mechanisms involved, the resulting cardiac manifestations, and the therapies currently offered or being developed. Read More

    Hepcidin agonists as therapeutic tools.
    Blood 2018 Mar 9. Epub 2018 Mar 9.
    Department of Pediatrics, Division of Hematology, Children's Hospital of Philadelphia, United States;
    Hepcidin agonists are a new class of compounds that regulate blood iron levels and limit iron absorption, and could improve the treatment of hemochromatosis, β-thalassemia, polycythemia vera, and other disorders where disrupted iron homeostasis causes disease or contributes to it. Hepcidin agonists also have the potential to prevent severe complications of siderophilic infections in patients with iron overload or chronic liver disease. This review highlights the preclinical studies that support the development of hepcidin agonists for the treatment of these disorders. Read More

    Gene-gene interactions among coding genes of iron-homeostasis proteins and APOE-alleles in cognitive impairment diseases.
    PLoS One 2018 8;13(3):e0193867. Epub 2018 Mar 8.
    Department of Biomedical and Specialty Surgical Sciences, and Section of Medical Biochemistry, Molecular Biology & Genetics and Ctr. Hemostasis & Thrombosis, University of Ferrara, Ferrara, Italy.
    Cognitive impairments of different aetiology share alterations in iron and lipid homeostasis with mutual relationships. Since iron and cholesterol accumulation impact on neurodegenerative disease, the associated gene variants are appealing candidate targets for risk and disease progression assessment. In this light, we explored the role of common single nucleotide polymorphisms (SNPs) in the main iron homeostasis genes and in the main lipoprotein transporter gene (APOE) in a cohort of 765 patients with dementia of different origin: Alzheimer's disease (AD) n = 276; vascular dementia (VaD), n = 255; mild cognitive impairment (MCI), n = 234; and in normal controls (n = 1086). Read More

    The Effects of Gestational Alloimmune Liver Disease on Fetal and Infant Morbidity and Mortality.
    J Pediatr 2018 Feb 27. Epub 2018 Feb 27.
    Department of Pediatrics, Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.
    Objectives: To evaluate pregnancy outcomes in pedigrees of neonatal hemochromatosis to determine the spectrum of gestational alloimmune liver disease (GALD) in a large cohort.

    Study Design: We prospectively collected data from women with a prior offspring with proven neonatal hemochromatosis between 1997 and 2015 and analyzed pregnancy outcomes.

    Results: The pedigrees from 150 women included 350 gestations with outcomes potentially related to GALD. Read More

    The voice of haemochromatosis journeys in regional Australia.
    Aust J Gen Pract 2018 Jan-Feb;47(1-2):64-69
    MBBS, MMedSci, GCULT, PhD, FRACGP, College of Medicine and Dentistry, James Cook University, Townsville, Qld.
    Discussion: People living with haemochromatosis had a positive attitude to the condition, but there were individual variations in the ways they engaged in self-management. A doctor–patient partnership is crucial in the management of haemochromatosis, especially in rural areas. Patients' symptom experiences and self‑management decisions need to be seriously considered. Read More

    Osteoporosis in chronic liver disease.
    Liver Int 2018 Feb 26. Epub 2018 Feb 26.
    Liver Unit, Hospital Clínic, IDIBAPS, CIBERehd University of Barcelona Barcelona, Spain.
    Osteoporosis is a frequent complication in patients with chronic liver disease, especially in end-stages and in chronic cholestasis, in addition to nonalcoholic fatty liver disease, hemochromatosis and alcoholism. Mechanisms underlying osteoporosis are poorly understood, but osteoporosis mainly results from low bone formation. In this setting, sclerostin, a key regulator of the Wnt/ß-catenin signalling pathway which regulates bone formation, in addition to the effects of the retained substances of cholestasis such as bilirubin and bile acids on osteoblastic cells, may influence the decreased bone formation in chronic cholestasis. Read More

    The Correlation of Cardiac and Hepatic Hemosiderosis as Measured by T2*MRI Technique with Ferritin Levels and Hemochromatosis Gene Mutations in Iranian Patients with Beta Thalassemia Major.
    Oman Med J 2018 Jan;33(1):48-54
    Department of Pediatric, School of Medical Sciences, Zanjan University of Medical Sciences, Zanjan, Iran.
    Objectives: Organ-specific hemosiderosis and iron overload complications are more serious and more frequent in some patients with beta thalassemia major (BTM) compared with others. We investigated whether coinheritance of HFE H63D or C282Y gene mutations in patients with BTM contributes to the phenotypic variation of iron overload complications and assessed the correlation of cardiac and hepatic hemosiderosis with plasma ferritin levels.

    Methods: We studied 60 patients with BTM with a mean age of 17. Read More

    Microhemorrhage-associated tissue iron enhances the risk forinvasion in a mouse model of airway transplantation.
    Sci Transl Med 2018 Feb;10(429)
    Division of Pulmonary and Critical Care Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.
    Invasive pulmonary disease due to the moldcan be life-threatening in lung transplant recipients, but the risk factors remain poorly understood. To study this process, we used a tracheal allograft mouse model that recapitulates large airway changes observed in patients undergoing lung transplantation. We report that microhemorrhage-related iron content may be a major determinant ofinvasion and, consequently, its virulence. Read More

    Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.
    BMC Pregnancy Childbirth 2018 02 17;18(1):53. Epub 2018 Feb 17.
    UMR1078 "Génétique, Génomique Fonctionnelle et Biotechnologies", Inserm, EFS, Université de Brest, ISBAM, 22 avenue Camille Desmoulins, 29200, Brest, France.
    Background: HFE hemochromatosis is an inborn error of iron metabolism linked to a defect in the regulation of hepcidin synthesis. This autosomal recessive disease typically manifests later in women than men. Although it is commonly stated that pregnancy is, with menses, one of the factors that offsets iron accumulation in women, no epidemiological study has yet supported this hypothesis. Read More

    Population Screening for Hereditary Haemochromatosis in Australia: Construction and Validation of a State-Transition Cost-Effectiveness Model.
    Pharmacoecon Open 2017 Mar;1(1):37-51
    University of Tasmania, Hobart, TAS, Australia.
    Introduction: HFE-associated haemochromatosis, the most common monogenic disorder amongst populations of northern European ancestry, is characterised by iron overload. Excess iron is stored in parenchymal tissues, leading to morbidity and mortality. Population screening programmes are likely to improve early diagnosis, thereby decreasing associated disease. Read More

    Mildly Elevated Liver Transaminase Levels: Causes and Evaluation.
    Am Fam Physician 2017 Dec;96(11):709-715
    Gastroenterology Consultants of Augusta, Augusta, GA, USA.
    Mild, asymptomatic elevations (less than five times the upper limit of normal) of alanine transaminase and aspartate transaminase levels are common in primary care. It is estimated that approximately 10% of the U.S. Read More

    Multilocular Hepatic Abscess Formation and Sepsis due toin a Patient with Hereditary Hemochromatosis and Type 2 Diabetes Mellitus.
    Case Rep Gastroenterol 2017 Sep-Dec;11(3):724-728. Epub 2017 Nov 29.
    Division of Gastroenterology, Department of Internal Medicine and Specialties, Triemli Hospital, Zurich, Switzerland.
    Infection with(YE) typically presents with mild gastroenteritis without systemic infection. However, systemic YE infection has been described in states of iron overload. We present the case of a patient with sepsis with hepatic abscesses due to YE infection. Read More

    The voice of haemochromatosis journeys in regional Australia – A qualitative study exploring self-management
    Aust J Gen Pract 2018 Jan-Feb;47(1-2):64-69
    MBBS, MMedSci, GCULT, PhD, FRACGP, College of Medicine and Dentistry, James Cook University, Townsville, Qld.
    Discussion: Hereditary haemochromatosis is a common inherited disorder of iron metabolism with avoidable long-term sequalae if it is detected early and managed well. Semi-structured focus group interviews were held in local community libraries. Data were transcribed verbatim, uploaded to NVivo data management software, descriptively coded and thematically analysed. Read More

    Identification of Genes for Hereditary Hemochromatosis.
    Methods Mol Biol 2018 ;1706:353-365
    Translational Genomics Research Institute, Phoenix, AZ, USA.
    Hereditary hemochromatosis (HH) is one of the most common genetically transmitted conditions in individuals of Northern European ancestry. The disease is characterized by excessive intestinal absorption of dietary iron, resulting in pathologically high iron storage in tissues and organs. If left untreated, HH can damage joints and organs, and eventually lead to death. Read More

    Hepatoblastoma in a Child With Early-onset Cirrhosis.
    J Pediatr Hematol Oncol 2018 Feb 7. Epub 2018 Feb 7.
    Departments of Hematology/Oncology.
    Hepatoblastoma is the most common hepatic malignancy of childhood with known genetic predispositions and perinatal risk factors, with rare case reports occurring in the setting of cirrhosis. This case describes a young patient with cirrhosis attributed to early-onset hereditary hemochromatosis who was diagnosed with hepatoblastoma with uncommon histologic findings, evidence of chemotherapy resistance who ultimately succumbed to her disease. It is important to consider diagnoses beyond hepatocellular carcinoma in this scenario and consider early biopsy. Read More

    Sex-specific analysis post-liver transplantation in hemochromatosis with aplastic anemia and hepatocellular carcinoma.
    Hepatol Commun 2018 Jan 11;2(1):13-15. Epub 2017 Nov 11.
    Department of PathologyUniversity of Western OntarioLondonONCanada.
    A 42-year-old man with hemochromatosis and cirrhosis developed aplastic anemia. He underwent liver transplantation from a female donor and splenectomy, and his aplastic anemia spontaneously resolved. A bone marrow examination 6 months after the liver transplant showed 17. Read More

    Clinical burden of liver disease from hemochromatosis at an academic medical center.
    Hepatol Commun 2017 Jul 18;1(5):453-459. Epub 2017 May 18.
    Iowa City Veterans Administration Medical CenterIowa CityIA.
    Hereditary hemochromatosis (HH) can cause cirrhosis and hepatocellular carcinoma (HCC), but the frequency of these complications is controversial. To address this question, we reviewed the experience with HH at an academic medical center that is the sole liver transplantation center in a state with a population that is >90% Caucasian. The records of all subjects with International Classification of Diseases, Ninth Revision, code 275, "disorders of iron metabolism" seen at the University of Iowa Hospitals and Clinics between January 1, 2004 and December 31, 2014 were reviewed, andC282Y homozygotes and C282Y/H63D compound heterozygotes were identified. Read More

    Transferrin Receptors TfR1 and TfR2 Bind Transferrin through Differing Mechanisms.
    Biochemistry 2018 Mar 12;57(9):1552-1559. Epub 2018 Feb 12.
    Department of Cell, Cancer and Developmental Biology , Oregon Health & Science University , 3181 SW Sam Jackson Park Road , Portland , Oregon 97201 , United States.
    Hereditary hemochromatosis (HH), a disease marked by chronic iron overload from insufficient expression of the hormone hepcidin, is one of the most common genetic diseases. One form of HH (type III) results from mutations in transferrin receptor-2 (TfR2). TfR2 is postulated to be a part of signaling system that is capable of modulating hepcidin expression. Read More

    Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.
    J Med Case Rep 2018 Jan 26;12(1):18. Epub 2018 Jan 26.
    Department of Gastroenterology & Hepatology, The Alfred Hospital, Melbourne, VIC, 3004, Australia.
    Background: Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause.

    Case Presentation: A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. Read More

    TIMP3 deficiency exacerbates iron-overload mediated cardiomyopathy and liver disease.
    Am J Physiol Heart Circ Physiol 2018 Jan 26. Epub 2018 Jan 26.
    Medicine, University of Alberta, Canada.
    Chronic iron-overload results in heart and liver diseases and is a common cause of morbidity and mortality in patients with genetic hemochromatosis and secondary iron-overload. We investigated the role of tissue inhibitor of metalloproteinase-3 (TIMP3) in iron-overload mediated tissue injury by subjecting male mice lacking Timp3 ( Timp3) and wildtype (WT) mice to 12 weeks of chronic iron-overload. While iron-overload in the WT group developed diastolic dysfunction, iron-overloaded Timp3mice showed worsened cardiac dysfunction coupled with systolic dysfunction. Read More

    Reduction of Skeletal Muscle Power in Adolescent Males Carrying H63D Mutation in theGene.
    Biomed Res Int 2017 6;2017:5313914. Epub 2017 Dec 6.
    Department of Bioenergetics and Physiology of Exercise, Medical University of Gdansk, Marii Skłodowskiej-Curie 3A, 80-210 Gdansk, Poland.
    Iron overload resulting from the mutation of genes involved in iron metabolism or excess dietary intake has been reported to negatively influence human physical performance. The aim of this study was to test the hypothesis that adolescents bearing a hemochromatosis genemutation in contrast to adults with the same mutation will not experience iron accumulation and their aerobic capacity will be similar to that of age-matched controls. Thirteen boys participated in the study. Read More

    Disorders of metal metabolism.
    Transl Sci Rare Dis 2017 Dec 18;2(3-4):101-139. Epub 2017 Dec 18.
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
    Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum. Of these, some are metals, and in particular, transition metals. Read More

    The role of T2*-weighted gradient echo in the diagnosis of tumefactive intrahepatic extramedullary hematopoiesis in myelodysplastic syndrome and diffuse hepatic iron overload: a case report and review of the literature.
    J Med Case Rep 2018 Jan 15;12(1). Epub 2018 Jan 15.
    Department of Diagnostic Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA, 52242, USA.
    Background: Extramedullary hematopoiesis is the proliferation of hematopoietic cells outside bone marrow secondary to marrow hematopoiesis failure. Extramedullary hematopoiesis rarely presents as a mass-forming hepatic lesion; in this case, imaging-based differentiation from primary and metastatic hepatic neoplasms is difficult, often leading to biopsy for definitive diagnosis. We report a case of tumefactive hepatic extramedullary hematopoiesis in the setting of myelodysplastic syndrome with concurrent hepatic iron overload, and the role of T2*-weighted gradient-echo magnetic resonance imaging in differentiating extramedullary hematopoiesis from primary and metastatic hepatic lesions. Read More

    Demystifying liver iron concentration measurements with MRI.
    Eur Radiol 2018 Jan 9. Epub 2018 Jan 9.
    Department of Radiology, Medical University of Innsbruck, Anichstraße 35, 6020, Innsbruck, Austria.
    This Editorial comment refers to the article: Non-invasive measurement of liver iron concentration using 3-Tesla magnetic resonance imaging: validation against biopsy. D'Assignies G, et al. Eur Radiol Nov 2017. Read More

    Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma.
    BMJ Case Rep 2018 Jan 4;2018. Epub 2018 Jan 4.
    Faculty of Health Sciences, University of Tasmania, Launceston, Tasmania, Australia.
    A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5 years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. Read More

    Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.
    BMC Med Genet 2018 Jan 5;19(1). Epub 2018 Jan 5.
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School, Av. Doutor Enéas de Carvalho Aguiar, 44-Cerqueira César, São Paulo, 05403 900, Brazil.
    Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). Read More

    Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis.
    J Pediatr Gastroenterol Nutr 2017 Dec 28. Epub 2017 Dec 28.
    Department of Diagnostic Imaging (KA, GBC).
    Background: There are limited data on utility of MRI in the assessment of suspected neonatal hemochromatosis (NH).

    Objectives: To present our experience with utilization of multi-echo sequences MRI technique in the evaluation of NH and to compare MRI findings in infants with and without NH.

    Methods: MRI performed for suspected NH were retrospectively reviewed to note the presence and severity of iron deposition (ID) in liver, spleen, pancreas and kidneys on multi-echo sequences. Read More

    Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in theandgenes.
    Hereditas 2017 19;154:16. Epub 2017 Dec 19.
    Institute of Hepatology London, Foundation for Liver Research, London,SE5 9NT and Faculty of Life Sciences & Medicine, King´s College London, London, UK.
    Background: Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH)C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (/p.Y111C) which in homozygotes causes the Jervell & Lange Nielsen syndrome (JLNS) and hearing loss (HL). Read More

    Autopsy relevance determining hemochromatosis: Case report.
    Medicine (Baltimore) 2017 Dec;96(49):e8788
    aDepartment of Pathology, Forensic Medicine and Pharmacology, Institute of Biomedical Sciences of the Faculty of Medicine of Vilnius UniversitybState Forensic Medicine ServicecFaculty of Natural Sciences, Vilnius University, Vilnius, Lithuania.
    Rationale: Hemochromatosis is a disorder, associated with an abnormal accumulation of iron leading to toxic organ damage. Clinical symptoms develop during a long period of time, thus, determining accidental or late diagnosis, usually when complications are evident.

    Patient Concerns: A 53-year-old man was brought to the emergency unit with symptoms of hypovolemic shock without any apparent cause, which ultimately led to multiple organ failure, severe metabolic acidosis. Read More

    Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.
    Blood 2018 Feb 13;131(8):899-910. Epub 2017 Dec 13.
    Department of Medicine, and.
    Nonclassical ferroportin disease (FD) is a form of hereditary hemochromatosis caused by mutations in the iron transporter ferroportin (Fpn), resulting in parenchymal iron overload. Fpn is regulated by the hormone hepcidin, which induces Fpn endocytosis and cellular iron retention. We characterized 11 clinically relevant and 5 nonclinical Fpn mutations using stably transfected, inducible isogenic cell lines. Read More

    Causes of iron overload in blood donors - a clinical study.
    Vox Sang 2018 Feb 12;113(2):110-119. Epub 2017 Dec 12.
    Blood Centre Lab, Hvidovre Hospital, Hvidovre, Denmark.
    Background And Objectives: Despite the obligate iron loss from blood donation, some donors present with hyperferritinaemia that can result from a wide range of acute and chronic conditions including hereditary haemochromatosis (HH). The objective of our study was to investigate the causes of hyperferritinaemia in the blood donor population and explore the value of extensive HH mutational analyses.

    Materials And Methods: Forty-nine consecutive donors (f = 6, m = 43) were included prospectively from the Capital Regional Blood Center. Read More

    Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis.
    Intern Med 2018 Feb 8;57(4):537-543. Epub 2017 Dec 8.
    Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Japan.
    Glycated hemoglobin (HbA1c) is a widely used marker of glycemic control but can be affected by hemolytic anemia. Glycated albumin (GA) is also affected in patients with liver cirrhosis. We herein report the assessment of glycemic control in a 41-year-old man with dehydrated hereditary stomatocytosis and a PIEZO1 gene mutation complicated by diabetes mellitus and liver cirrhosis due to hemochromatosis. Read More

    [Iron intake and HFE gen in male adults from Buenos Aires].
    Medicina (B Aires) 2017 ;77(6):458-464
    Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Cátedra de Nutrición. Buenos Aires, Argentina. E-mail:
    Excess iron (Fe) intake in subjects carrying certain mutations in the HFE gene may result in Fe overload. To estimate risk of Fe overload, 166 male blood donors (19-65 years) from Buenos Aires city were investigated. Daily Fe intake (FeI), hem Fe intake, and Fe intake from SO4Fe enriched flours were estimated (SARA Computer Program and Food Composition Table, USDA). Read More

    Advanced iron-overload cardiomyopathy in a genetic murine model is rescued by resveratrol therapy.
    Biosci Rep 2018 02 10;38(1). Epub 2018 Jan 10.
    Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Canada
    Iron-overload cardiomyopathy is prevalent on a worldwide basis and is a major comorbidity in patients with genetic hemochromatosis and secondary iron overload. Therapies are limited in part due to lack of a valid preclinical model, which recapitulates advanced iron-overload cardiomyopathy. Male hemojuvelin (HJV) knockout (HJVKO) mice, which lack HJV, a bone morphogenetic co-receptor protein required for hepcidin expression and systemic iron homeostasis, were fed a high-iron diet starting at 4 weeks of age for a duration of 1 year. Read More

    Hemochromatosis Gene Polymorphism as a Predictor of Sustained Virological Response to Antiviral Treatment in Egyptian Chronic Hepatitis C Patients.
    Euroasian J Hepatogastroenterol 2017 Jul-Dec;7(2):154-157. Epub 2017 Sep 29.
    Department of Medical Biochemistry, Beni Suef University, Beni Suef, Egypt.
    Aim: The aim of this article is to assess HFE C282Y gene mutations as a predictor of sustained virological response (SVR) to anti-hepatitis C virus (HCV) treatment in Egyptian patients.

    Materials And Methods: One hundred and forty chronic hepatitis C (CHC) patients were divided into two groups: 70 patients achieved SVR and 70 patients were nonresponders (NRs). All patients were subjected to quantitative polymerase chain reaction (PCR) at baseline, 12 and 24 weeks after therapy commencement. Read More

    Liver Disease in Sri Lanka.
    Euroasian J Hepatogastroenterol 2017 Jan-Jun;7(1):78-81. Epub 2017 May 5.
    Department of Gastroenterology and Hepatology, Provincial General Hospital, Badulla, Sri Lanka.
    Liver disease in Sri Lanka is mainly due to alcoholic liver disease and nonalcoholic fatty liver disease. In contrast to other South Asian countries, the prevalence of hepatitis B and C is low in Sri Lanka and prevalence of hepatitis A is intermediate. The few reported cases of hepatitis E in Sri Lanka are mainly in people who have traveled to neighboring South Asian countries. Read More

    Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.
    Neuroimage Clin 2018 8;17:530-540. Epub 2017 Nov 8.
    Buffalo Neuroimaging Analysis Center, Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, NY, USA.
    Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination. Read More

    An unexpected cause of liver cirrhosis and cardiomyopathy in a young man.
    Acta Clin Belg 2017 Dec 4:1-5. Epub 2017 Dec 4.
    a Department of Cardiology , University Hospital , Ghent , Belgium.
    Introduction Juvenile hemochromatosis is a rare but severe form of hereditary hemochromatosis that typically presents early in life and can be fatal if left untreated. Case presentation We present the case of a 30-year-old man with a clear symptomatology of juvenile hemochromatosis, but in whom the diagnosis was initially mistaken for alcoholic liver disease because of known excessive use of alcohol, with the consequence that an adequate treatment was postponed. Discussion In this report, we discuss the diagnosis and treatment of juvenile hemochromatosis, focusing on the interaction between hemochromatosis and alcohol induced liver disease and how to differentiate both. Read More

    Reduction of body iron in HFE-related haemochromatosis and moderate iron overload (Mi-Iron): a multicentre, participant-blinded, randomised controlled trial.
    Lancet Haematol 2017 Dec;4(12):e607-e614
    Murdoch Children's Research Institute, Melbourne, VIC, Australia; University of Melbourne, Melbourne, VIC, Australia; Monash University, Melbourne, VIC, Australia; Austin Health, Melbourne, VIC, Australia; Victorian Clinical Genetics Services, Melbourne, VIC, Australia. Electronic address:
    Background: The iron overload disorder hereditary haemochromatosis is most commonly caused by HFE p.Cys282Tyr homozygosity. In the absence of results from any randomised trials, current evidence is insufficient to determine whether individuals with hereditary haemochromatosis and moderately elevated serum ferritin, should undergo iron reduction treatment. Read More

    Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia.
    EMBO Mol Med 2018 Jan;10(1):91-106
    Proteome Biochemistry, Division of Genetics and Cell Biology, IRCCS-San Raffaele Scientific Institute, Milan, Italy
    Aceruloplasminemia is a monogenic disease caused by mutations in the ceruloplasmin gene that result in loss of protein ferroxidase activity. Ceruloplasmin plays a role in iron homeostasis, and its activity impairment leads to iron accumulation in liver, pancreas, and brain. Iron deposition promotes diabetes, retinal degeneration, and progressive neurodegeneration. Read More

    Non-invasive measurement of liver iron concentration using 3-Tesla magnetic resonance imaging: validation against biopsy.
    Eur Radiol 2017 Nov 24. Epub 2017 Nov 24.
    Department of Radiology, Rennes University Hospital, 2 rue H. Le Guilloux, 35033, Rennes, France.
    Objectives: To evaluate the performance and limitations of the R2* and signal intensity ratio (SIR) methods for quantifying liver iron concentration (LIC) at 3 T.

    Methods: A total of 105 patients who underwent a liver biopsy with biochemical LIC (LIC) were included prospectively. All patients underwent a 3-T MRI scan with a breath-hold multiple-echo gradient-echo sequence (mGRE). Read More

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