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    10029 results match your criteria Hemochromatosis

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    GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
    Ann Hepatol 2017 May - Jun 2017;16(3):451-456
    School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.
    Background And Aim: HFE-related Hemochromatosis (HH) is characterized by marked phenotype heterogeneity, probably due to the combined action of acquired and genetic factors. Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial. To shed light on these discrepancies, we genotyped 298 Italian p. Read More

    Levodopa Responsive Parkinsonism in Patients with Hemochromatosis: Case Presentation and Literature Review.
    Case Rep Neurol Med 2017 23;2017:5146723. Epub 2017 Mar 23.
    Department of Neurology and Ophthalmology, Michigan State University, East Lansing, MI, USA.
    Hemochromatosis is an autosomal recessive disorder which leads to abnormal iron deposition in the parenchyma of multiple organs causing tissue damage. Accumulation of iron in the brain has been postulated to be associated with several neurodegenerative diseases including Parkinson's disease. The excess iron promotes Parkin and α-synuclein aggregation in the neurons. Read More

    HFE Gene Mutations and Iron Status in 100 Healthy Polish Children.
    J Pediatr Hematol Oncol 2017 Apr 12. Epub 2017 Apr 12.
    Departments of *Occupational Therapy †Bioenergetics and Nutrition #Physiotherapy, Gdansk University of Physical Education and Sport Departments of ‡Bioenergetics and Physiology of Exercise §Pediatrics, Hematology and Oncology ∥Pediatrics, Diabetology and Endocrinology ¶Laboratory of Molecular Biology, Medical University of Gdansk.
    Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. Read More

    Type 3c (pancreatogenic) diabetes mellitus secondary to chronic pancreatitis and pancreatic cancer.
    Lancet Gastroenterol Hepatol 2016 Nov 12;1(3):226-237. Epub 2016 Oct 12.
    Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN, USA.
    Diabetes mellitus is a group of diseases defined by persistent hyperglycaemia. Type 2 diabetes, the most prevalent form, is characterised initially by impaired insulin sensitivity and subsequently by an inadequate compensatory insulin response. Diabetes can also develop as a direct consequence of other diseases, including diseases of the exocrine pancreas. Read More

    Care for Haemoglobinopathy Patients in Slovakia.
    Cent Eur J Public Health 2017 Mar;25(1):67-71
    Department of Haematology, Paediatric Faculty Hospital, Bratislava, Slovakia.
    Background: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling.

    Methods: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing. Read More

    Systemic iron homeostasis and erythropoiesis.
    IUBMB Life 2017 Apr 6. Epub 2017 Apr 6.
    Lady Davis Institute for Medical Research and Department of Medicine, McGill University, Montreal, Quebec, Canada.
    Iron is an essential nutrient that is potentially toxic due to its redox reactivity. Insufficient iron supply to erythroid cells, the major iron consumers in the body, leads to various forms of anemia. On the other hand, iron overload (hemochromatosis) is associated with tissue damage and diseases of liver, pancreas, and heart. Read More

    The role of iron in the pathogenesis of atherosclerosis.
    Physiol Res 2017 Apr;66(Supplementum 1):S55-S67
    Second Department of Internal Medicine, Third Faculty of Medicine, Charles University and University Hospital Královské Vinohrady, Prague, Czech Republic.
    Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins. Read More

    Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
    Eur J Med Genet 2017 Mar 28. Epub 2017 Mar 28.
    Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:
    Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It presents in the early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis. Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis. Read More

    Analysis of single nucleotide variants of HFE gene and association to survival in The Cancer Genome Atlas GBM data.
    PLoS One 2017 30;12(3):e0174778. Epub 2017 Mar 30.
    Department of Neurosurgery, The Pennsylvania State University College of Medicine, Penn State Hershey Medical Center, Hershey, Pennsylvania, United States of America.
    Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). Read More

    Mice lacking liver-specific β-catenin develop steatohepatitis and fibrosis after iron overload.
    J Hepatol 2017 Mar 21. Epub 2017 Mar 21.
    Department of Pathology (Division of Experimental Pathology), University of California at Los Angeles, Los Angeles, CA; Pittsburgh Liver Research Center, University of California at Los Angeles, Los Angeles, CA; Department of Medicine (Division of Gastroenterology, Hepatology and Nutrition), University of California at Los Angeles, Los Angeles, CA. Electronic address:
    Background & Aims: Iron overload disorders such as hereditary hemochromatosis and iron-loading anemias are a common cause of morbidity from liver diseases and increase risk of hepatic fibrosis and hepatocellular carcinoma (HCC). Once iron-induced damage occurs, treatment options are limited partly because of the lack of animal models recapitulating human disease, which do not exhibit relevant sequelae after chronic iron overload.

    Methods: Since liver-specific β-catenin knockout mice (KO) are susceptible to injury, fibrosis and tumorigenesis following chemical carcinogen exposure, iron-overload diet was administered to KO and littermate control (CON) mice for various times. Read More

    Identification of New BMP6 Pro-Peptide Mutations in Patients with Iron Overload.
    Am J Hematol 2017 Mar 23. Epub 2017 Mar 23.
    Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy.
    Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are not infrequently seen at referral centers, suggesting a role of still unknown genetic factors. A compelling candidate is Bone Morphogenetic Protein 6 (BMP6), which acts as a major activator of the BMP-SMAD signaling pathway, ultimately leading to the upregulation of hepcidin gene transcription. Read More

    Diabetes in HFE Hemochromatosis.
    J Diabetes Res 2017 26;2017:9826930. Epub 2017 Feb 26.
    Southern Iron Disorders Center, Birmingham, AL 35209, USA; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
    Diabetes in whites of European descent with hemochromatosis was first attributed to pancreatic siderosis. Later observations revealed that the pathogenesis of diabetes in HFE hemochromatosis is multifactorial and its clinical manifestations are heterogeneous. Increased type 2 diabetes risk in HFE hemochromatosis is associated with one or more factors, including abnormal iron homeostasis and iron overload, decreased insulin secretion, cirrhosis, diabetes in first-degree relatives, increased body mass index, insulin resistance, and metabolic syndrome. Read More

    Incident acute pseudogout and prior bisphosphonate use: Matched case-control study in the UK-Clinical Practice Research Datalink.
    Medicine (Baltimore) 2017 Mar;96(12):e6177
    Research Institute for Primary Care and Health Sciences, Keele University, Keele, Staffordshire, UK.
    Oral bisphosphonates are the most commonly used drugs to treat postmenopausal osteoporosis. Acute pseudogout is anecdotally reported to occur following bisphosphonate initiation but empirical data are lacking. We investigated whether treatment with oral bisphosphonates is a risk factor for incident acute pseudogout. Read More

    Shigella sonnei Bacteremia Presenting with Profound Hepatic Dysfunction.
    Case Rep Gastrointest Med 2017 23;2017:7293281. Epub 2017 Feb 23.
    Department of Internal Medicine, Reading Health System, Spruce Street and 6th Avenue, West Reading, PA 19610, USA.
    Worldwide, Shigellosis is a significant public health issue, associated with nearly one million deaths annually. About half a million cases of Shigella infection are reported annually in the United States. Shigella bacteremia is uncommon and generally seen in children and immunocompromised adults. Read More

    Neonatal acute liver failure: a diagnosis challenge.
    Arch Argent Pediatr 2017 Apr;115(2):175-180
    Departamento de Pediatría. Centre hospitalier universitaire Sainte-Justine. Universidad de Montreal. Canadá.
    Neonatal acute liver failure is a rare, very severe disease with a high rate of mortality. It is clinically and etiologically different from acute liver failure seen in older children and adults. Coagulopathy with an international normalized ratio ≥ 3 is the critical parameter that defines it. Read More

    Diabetes remission after bariatric surgery in obese patients with haemochromatosis.
    Diabetes Metab 2017 Mar 14. Epub 2017 Mar 14.
    Institute of Cardiometabolism and Nutrition, ICAN, Assistance Publique Hôpitaux de Paris, France; Nutrition Department, Pitié-Salpêtrière Hospital, Nutrition Department, 75013 Paris, France; Sorbonne Universités, UPMC Université Paris 06 and INSERM, UMR_S 1166, Team 6 Nutriomics, 75013 Paris, France. Electronic address:

    The Regulation of Iron Absorption and Homeostasis.
    Clin Biochem Rev 2016 May;37(2):51-62
    QIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006 Australia.
    Iron is an essential element in biology, required for numerous cellular processes. Either too much or too little iron can be detrimental, and organisms have developed mechanisms for balancing iron within safe limits. In mammals there are no controlled mechanisms for the excretion of excess iron, hence body iron homeostasis is regulated at the sites of absorption, utilisation and recycling. Read More

    HFE mutations and iron in hemodialysis patients.
    Hemodial Int 2017 Mar 15. Epub 2017 Mar 15.
    Department of Pathophysiology and Transplantation, Internal Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milano, Italy.
    Introduction: in chronic hemodialysis patients, a disruption in iron metabolism ranging from absolute to functional deficiency, with compartmentalization of this metal into macrophages, is often observed. Chronic inflammation indeed often causes an upregulation of the iron hormone hepcidin, thereby reducing iron absorption and availability to the erythron.

    Methods: we systematically reviewed the literature on the role of genetic risk factors on iron metabolism in hemodialysis. Read More

    ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS.
    Retina 2017 Mar 13. Epub 2017 Mar 13.
    *Vista Diagnostics, Zurich, Switzerland; †Eye Clinic, Kantonsspital Basel Land, Liestal, Switzerland; ‡Division of Internal Medicine, Linth Hospital, Uznach, Switzerland; and §Department of Internal Medicine, University Hospital Zurich, Zurich, Switzerland.
    Purpose: Iron can exert oxidative damage, and increased accumulation is believed to play a role in age-related macular degeneration. Hereditary hemochromatosis leads to an increase in total body iron. Patients with HH were assessed for drusen and other retinal changes. Read More

    Pathophysiological consequences and benefits of HFE mutations - 20 years of research.
    Haematologica 2017 Mar 9. Epub 2017 Mar 9.
    University Hospital of Heidelberg, Germany
    Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Read More

    TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood.
    Neth J Med 2017 Mar;75(2):56-64
    Radboudumc Expertise Center for Iron Disorders, Radboud University Medical Center, Nijmegen, the Netherlands.
    Background: Type 3 hereditary haemochromatosis (HH) is a rare iron overload disorder caused by variants in the transferrin 2 receptor (TFR2) gene. We aim to present characteristics of patients diagnosed with TFR2-HH in the Netherlands, in order to increase knowledge and awareness of this disease.

    Methods: We collected clinical, biochemical and genetic data from four patients from three families diagnosed with HH type 3 in the Netherlands between 2009 and 2016. Read More

    Interventions for hereditary haemochromatosis: an attempted network meta-analysis.
    Cochrane Database Syst Rev 2017 Mar 8;3:CD011647. Epub 2017 Mar 8.
    Department of Surgery, Royal Free Campus, UCL Medical School, Pond Street, London, UK, NW3 2QG.
    Background: Hereditary haemochromatosis is a genetic disorder related to proteins involved in iron transport, resulting in iron load and deposition of iron in various tissues of the body. This iron overload leads to complications including liver cirrhosis (and related complications such as liver failure and hepatocellular carcinoma), cardiac failure, cardiac arrhythmias, impotence, diabetes, arthritis, and skin pigmentation. Phlebotomy (venesection or 'blood letting') is the currently recommended treatment for hereditary haemochromatosis. Read More

    Clinical Impact and Cellular Mechanisms of Iron Overload-Associated Bone Loss.
    Front Pharmacol 2017 21;8:77. Epub 2017 Feb 21.
    Department of Medicine, University of Debrecen Debrecen, Hungary.
    Diseases/conditions with diverse etiology, such as hemoglobinopathies, hereditary hemochromatosis and menopause, could lead to chronic iron accumulation. This condition is frequently associated with a bone phenotype; characterized by low bone mass, osteoporosis/osteopenia, altered microarchitecture and biomechanics, and increased incidence of fractures. Osteoporotic bone phenotype constitutes a major complication in patients with iron overload. Read More

    R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis.
    Eur J Radiol 2017 Apr 5;89:149-155. Epub 2017 Feb 5.
    Department of Radiology, Medical University of Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.
    Purpose: To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry.

    Materials And Methods: 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. Read More

    Performing therapeutic venesection in a doctor's surgery.
    Aust Fam Physician 2017 Mar;46(3):132-138
    Background: Although venesection was widely applied in the past for the treatment of various ailments and diseases, in modern medical practice, it is indicated in very few conditions, namely, hereditary haemochromatosis, polycythaemia and porphyria cutanea tarda.

    Objective: This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery. Read More

    DIAGNOSIS OF ENDOCRINE DISEASE: Expanding the cause of hypopituitarism.
    Eur J Endocrinol 2017 Jun 3;176(6):R269-R282. Epub 2017 Mar 3.
    School of MedicineUniversity of Belgrade, Belgrade, Serbia
    Hypopituitarism is defined as one or more pituitary hormone deficits due to a lesion in the hypothalamic-pituitary region. By far, the most common cause of hypopituitarism associated with a sellar mass is a pituitary adenoma. A high index of suspicion is required for diagnosing hypopituitarism in several other conditions such as other massess in the sellar and parasellar region, brain damage caused by radiation and by traumatic brain injury, vascular lesions, infiltrative/immunological/inflammatory diseases (lymphocytic hypophysitis, sarcoidosis and hemochromatosis), infectious diseases and genetic disorders. Read More

    Neonatal Liver Failure and Congenital Cirrhosis due to Gestational Alloimmune Liver Disease: A Case Report and Literature Review.
    Case Rep Pediatr 2017 30;2017:7432859. Epub 2017 Jan 30.
    Department of Pediatrics, Hospital de Clínicas de Porto Alegre, Pediatric Gastroenterology Unit, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
    Neonatal liver failure (NLF) is a major cause of neonatal morbidity and mortality, presenting as acute liver failure and/or congenital cirrhosis. Many affected patients show antenatal signs of fetal injury. There are several causes of NLF and early diagnosis is mandatory to elucidate the etiology and determine a specific treatment or the best management strategy. Read More

    Serum ferritin concentration predicts hepatic fibrosis better than hepatic iron concentration in human HFE-Haemochromatosis.
    Liver Int 2017 Feb 23. Epub 2017 Feb 23.
    Hepatic Fibrosis Group, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
    Background & Aims: Ferritin is purported to have proinflammatory and profibrogenic effects on hepatic stellate cells. Thus, rather than acting as a passive indicator of hepatic iron concentration (HIC) in haemochromatosis, ferritin may directly influence fibrosis. This study evaluated whether serum ferritin is a better predictor of hepatic fibrosis compared to variables previously associated with increased fibrosis risk in haemochromatosis. Read More

    Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
    BMC Med Genomics 2017 Feb 23;10(1):10. Epub 2017 Feb 23.
    Stanley Institute for Cognitive Genomics, One Bungtown Road, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.
    Background: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants.

    Methods: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms. A comprehensive WGS pipeline was used to ensure reliable detection of genomic variants. Read More

    Modulating the selectivity of matriptase-2 inhibitors with unnatural amino acids.
    Eur J Med Chem 2017 Mar 11;129:110-123. Epub 2017 Feb 11.
    Department of Pharmacology-Physiology, Université de Sherbrooke, 3001 12(e) Avenue Nord, Sherbrooke, Québec, J1H 5N4, Canada; Institut de Pharmacologie de Sherbrooke, Université de Sherbrooke, 3001 12(e) Avenue Nord, Sherbrooke, Québec, J1H 5N4, Canada. Electronic address:
    Matriptase-2, a type II transmembrane serine protease (TTSP), is expressed in the liver and regulates iron homeostasis via the cleavage of hemojuvelin. Matriptase-2 emerges as an attractive target for the treatment of conditions associated with iron overload, such as hemochromatosis or beta-thalassemia. Starting from the crystal structure of its closest homolog matriptase, we constructed a homology model of matriptase-2 in order to further optimize the selectivity of serine trap peptidomimetic inhibitors for matriptase-2 vs matriptase. Read More

    β2-microglobulin participates in development of lung emphysema by inducing lung epithelial cells senescence.
    Am J Physiol Lung Cell Mol Physiol 2017 Feb 17:ajplung.00516.2016. Epub 2017 Feb 17.
    Beijing Chao-Yang Hospital, Capital Medical University
    β2-microglobulin (β2m), the light chain of major histocompatibility complex class 1 (MHC I), has been identified as a pro-aging factors and involved in the pathogenesis of neurodegenerative disorders by driving cognitive and regenerative impairments. However, little attention has focused on the effect of β2m in development of lung emphysema. Here, we found that concentrations of β2m in plasma were significantly elevated in patients with lung emphysema than those in normal control subjects (1. Read More

    HFE gene mutation and iron overload in Egyptian pediatric acute lymphoblastic leukemia survivors: a single-center study.
    Hematology 2017 Feb 17:1-7. Epub 2017 Feb 17.
    c Department Pediatrics , Benha Educational Hospital , Benha , Egypt.
    Background: Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile.

    Patients And Methods: This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals. Read More

    Mössbauer Spectra of Mouse Hearts Reveal Age-dependent Changes in Mitochondrial and Ferritin Iron Levels.
    J Biol Chem 2017 Mar 15;292(13):5546-5554. Epub 2017 Feb 15.
    From the Departments of Chemistry and
    Cardiac function requires continuous high levels of energy, and so iron, a critical player in mitochondrial respiration, is an important component of the heart. Hearts from (57)Fe-enriched mice were evaluated by Mössbauer spectroscopy. Spectra consisted of a sextet and two quadrupole doublets. Read More

    Characterization of Ferroptosis in Murine Models of Hemochromatosis.
    Hepatology 2017 Feb 13. Epub 2017 Feb 13.
    School of Public Health, Zhengzhou University; School of Public Health, The First Affiliated Hospital, Institute of Translational Medicine, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, School of Medicine, Zhejiang University, Hangzhou, 310058, China.
    Ferroptosis is a recently identified iron-dependent form of non-apoptotic cell death implicated in brain, kidney, and heart pathology. However, the biological roles of iron and iron metabolism in ferroptosis remain poorly understood. Here, we studied the functional role of iron and iron metabolism in the pathogenesis of ferroptosis. Read More

    Secondary Hemochromatosis due to Chronic Oral Iron Supplementation.
    Case Rep Hematol 2017 4;2017:2494167. Epub 2017 Jan 4.
    The University of Tennessee, Graduate School of Medicine, Knoxville, TN, USA.
    Iron may accumulate in excess due to a mutation in the HFE gene that upregulates absorption or when it is ingested or infused at levels that exceed the body's ability to clear it. Excess iron deposition in parenchymal tissue causes injury and ultimately organ dysfunction. Diabetes mellitus and hepatic cirrhosis due to pancreas and liver damage are just two examples of diseases that result from iron overload. Read More

    Studying disorders of vertebrate iron and heme metabolism using zebrafish.
    Methods Cell Biol 2017 9;138:193-220. Epub 2016 Dec 9.
    Brigham & Women's Hospital, Boston, MA, United States; Harvard Medical School, Boston, MA, United States; Dana-Farber Cancer Institute, Boston, MA, United States; Boston Children's Hospital, Boston, MA, United States.
    Iron is a crucial component of heme- and iron-sulfur clusters, involved in vital cellular functions such as oxygen transport, DNA synthesis, and respiration. Both excess and insufficient levels of iron and heme-precursors cause human disease, such as iron-deficiency anemia, hemochromatosis, and porphyrias. Hence, their levels must be tightly regulated, requiring a complex network of transporters and feedback mechanisms. Read More

    Females Are Protected From Iron-Overload Cardiomyopathy Independent of Iron Metabolism: Key Role of Oxidative Stress.
    J Am Heart Assoc 2017 Jan 23;6(1). Epub 2017 Jan 23.
    Division of Cardiology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada
    Background: Sex-related differences in cardiac function and iron metabolism exist in humans and experimental animals. Male patients and preclinical animal models are more susceptible to cardiomyopathies and heart failure. However, whether similar differences are seen in iron-overload cardiomyopathy is poorly understood. Read More

    Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy.
    Clin Gastroenterol Hepatol 2017 Jan 20. Epub 2017 Jan 20.
    CHU Rennes, Service des Maladies du Foie and Centre National de Référence des Surcharges en Fer Rares, Rennes, France; INSERM, CIC 1414, Rennes, France; University of Rennes 1, Faculty of Medicine, Rennes, France.
    Background & Aims: Even if patients with hemochromatosis maintain low serum levels of ferritin, they still have an increased risk of general and joint symptoms, which reduce quality of life. This could be related to persistently increased transferrin saturation. We assessed whether duration of exposure to increased transferrin saturation during maintenance therapy is associated with more severe general and joint symptoms. Read More

    Identification of hereditary hemochromatosis pedigrees and a novel SLC40A1 mutation in Chinese population.
    Blood Cells Mol Dis 2017 Mar 11;63:34-36. Epub 2017 Jan 11.
    Beijing Advanced Innovation Center for Food Nutrition and Human Health, College of Food Science and Nutritional Engineering, China Agricultural University, Beijing 100083, China; Nutrition Discovery Innovation Center, School of Public Health, School of Medicine, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou 310058, China; Precision Nutrition Innovation Center, School of Public Health, Zhengzhou University, Zhengzhou 450001, China. Electronic address:

    Patients with Haemoglobinopathies and Chronic Hepatitis C: A Real Difficult to Treat Population in 2016?
    Mediterr J Hematol Infect Dis 2017 1;9(1):e2017003. Epub 2017 Jan 1.
    Department of Medicine and Research Laboratory of Internal Medicine, School of Medicine, University of Thessaly, Larissa, Greece.
    Background & Objectives: In the past, patients with haemoglobinopathies were at high risk of acquiring hepatitis C virus (HCV) due to multiple transfusions before HCV screening. In these patients, the coexistence of haemochromatosis and chronic hepatitis C (CHC) often leads to more severe liver disease. We assessed the HCV prevalence, clinical characteristics and outcome in this setting with particular attention to the response to treatment including therapies with the new direct acting antivirals (DAAs). Read More

    Regulation of the Iron Homeostatic Hormone Hepcidin.
    Adv Nutr 2017 Jan 17;8(1):126-136. Epub 2017 Jan 17.
    Center for Iron Disorders, Department of Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA
    Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Read More

    Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
    Pediatr Res 2017 Mar 1. Epub 2017 Mar 1.
    Department of pathology, Hôpital Femme-Mère-Enfant, CHU de Lyon, France.
    Background: Neonatal hemochromatosis caused by a gestational alloimmune mechanism or gestational alloimmune liver disease (GALD) is a rare perinatal disorder characterized by intra- and extrahepatic iron overload. It is believed to result from complement-mediated liver injury, in which the classical complement pathway is activated by maternal antibody/fetal antigen complexes, leading to hepatocyte lysis by the membrane attack complex C5b9. According to some authors, C5b9 expression in more than 75% of liver parenchyma is specific for GALD. Read More

    A Case Study of Hemochromatosis and Conflicting Point Shear Wave Measurements in the Assessment of Liver Fibrosis.
    Ultrasound Q 2017 Mar;33(1):49-50
    *Northeast Ohio Medical University, Rootstown; and †Radiology Consultants, Youngstown, OH.
    There are multiple factors that affect the shear wave speed in the assessment of liver stiffness. In this case report, we present a case of hemochromatosis that has elevated liver stiffness suggestive of significant fibrosis or cirrhosis; however on liver biopsy, no fibrosis was identified. This article will discuss the possibility that liver iron deposition may affect SWE measurements of the liver, leading to inaccurate assessment of liver fibrosis. Read More

    Undiagnosed diabetes and impaired fasting glucose in HFE C282Y homozygotes and HFE wild-type controls in the HEIRS Study.
    BMJ Open Diabetes Res Care 2016 26;4(1):e000278. Epub 2016 Dec 26.
    Southern Iron Disorders Center, Birmingham, Alabama, USA; Department of Microbiology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
    Objective: To determine prevalences and predictors of undiagnosed diabetes mellitus (UDM) and impaired fasting glucose (IFG) in non-Hispanic whites with HFE p.C282Y homozygosity and controls without common HFE mutations identified in population screening.

    Research Design And Methods: We analyzed these observations in a postscreening examination: age; sex; body mass index; systolic/diastolic blood pressure; metacarpophalangeal joint hypertrophy; hepatomegaly; blood neutrophils; alanine and aspartate aminotransferase; elevated C reactive protein; transferrin saturation; serum ferritin; and Field Center. Read More

    Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis.
    J Pediatr Hematol Oncol 2017 Jan 6. Epub 2017 Jan 6.
    Departments of *Pediatrics, Division of Pediatric Gastroenterology, Hepatology and Nutrition ‡Pathology, Gazi University Faculty of Medicine, Ankara, Turkey †"Mario Coppo" Liver Research Center, Division of Internal Medicine 2 and Center for Hemochromatosis, University Hospital of Modena, Modena, Italy.
    Background: Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. Read More

    Sepsis and siderosis, Yersinia enterocolitica and hereditary haemochromatosis.
    BMJ Case Rep 2017 Jan 4;2017. Epub 2017 Jan 4.
    Royal Brisbane and Women's Hospital, Herston, Queensland, Australia.
    A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Read More

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