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    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 Feb 15. Epub 2017 Feb 15.
    Texas A&M University
    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 Mossbauer 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 19. Epub 2017 Jan 19.
    CHU Rennes, Service des maladies du foie and Centre national de référence des surcharges en fer rares, F-35033 Rennes, France; INSERM, CIC 1414, F-35033 Rennes, France; University of Rennes 1, Faculty of Medicine, F-35000 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 Jan 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 Jan 13. Epub 2017 Jan 13.
    1.Department of pathology, Hôpital Femme-Mère-Enfant, CHU de Lyon, France.
    Background: neonatal hemochromatosis caused by a gestational alloimmune mechanism or GALD (Gestational Alloimmune Liver Disease) 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 Jan 9. Epub 2017 Jan 9.
    *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

    Cost-Effectiveness of Different Population Screening Strategies for Hereditary Haemochromatosis in Australia.
    Appl Health Econ Health Policy 2016 Dec 29. Epub 2016 Dec 29.
    Menzies Institute for Medical Research, Medical Science 2 Building, University of Tasmania, 17 Liverpool St, Private Bag 23, Hobart, TAS, 7000, Australia.
    Introduction: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. Read More

    C282Y/H63D hemochromatosis mutations and microevolution: Speculations concerning the Basque population.
    Homo 2017 Jan 19;68(1):38-41. Epub 2016 Dec 19.
    UMR 5199 PACEA, University of Bordeaux, Pessac, France; Department of Hematology, Centre Hospitalier de la Côte Basque, Bayonne, France. Electronic address:
    The Basques live at the Western extremity of the Pyrenees. According to linguistic and genetic data they could be considered as one of the most ancient European populations. Numerous studies have evidenced particular patterns in the frequency of several genetic polymorphisms in this relatively unmixed human group. Read More

    Human macrophage ferroportin biology and the basis for the Ferroportin Disease.
    Hepatology 2016 Dec 27. Epub 2016 Dec 27.
    Division of Internal Medicine 2 and Center for Hemochromatosis, University Hospital of Modena, Modena, Italy.
    Ferroportin (FPN1) is the sole iron-exporter in mammals but its cell-specific function and regulation are still elusive. This study aims at studying FPN1 expression in human macrophages, the cells that mostly contribute on a daily basis to plasma iron turnover and are central in the pathogenesis of the disease due to lack-of-function FPN1 mutations, the Ferroportin Disease (FD). We characterized FPN1 protein expression and traffic by confocal microscopy, western blot, gel-filtration and immunoprecipitation studies in macrophages from blood donors and patients with either FPN1 p. Read More

    Intern Med J 2016 Dec 26. Epub 2016 Dec 26.
    College of Health, Massey University PO Box 756, Wellington, New Zealand.
    Background: The diagnosis of Hereditary Haemochromatosis (HH) is not straightforward since symptoms are often absent or non-specific. Biochemical markers of iron-overloading, may be affected by other conditions. This study measured the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in NZ. Read More

    RGMs: Structural Insights, Molecular Regulation, and Downstream Signaling.
    Trends Cell Biol 2016 Dec 19. Epub 2016 Dec 19.
    Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center, Universiteitsweg 100, 3584 CG, Utrecht, The Netherlands. Electronic address:
    Although originally discovered as neuronal growth cone-collapsing factors, repulsive guidance molecules (RGMs) are now known as key players in many fundamental processes, such as cell migration, differentiation, iron homeostasis, and apoptosis, during the development and homeostasis of many tissues and organs, including the nervous, skeletal, and immune systems. Furthermore, three RGMs (RGMa, RGMb/DRAGON, and RGMc/hemojuvelin) have been linked to the pathogenesis of various disorders ranging from multiple sclerosis (MS) to cancer and juvenile hemochromatosis (JHH). While the molecular details of these (patho)biological effects and signaling modes have long remained unknown, recent studies unveil several exciting and novel aspects of RGM processing, ligand-receptor interactions, and downstream signaling. Read More

    ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries.
    Am J Gastroenterol 2017 Jan 20;112(1):18-35. Epub 2016 Dec 20.
    Yale Viral Hepatitis Program, Yale University School of Medicine, New Haven, Connecticut, USA.
    Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Read More

    An unfortunate case of acquired hemochromatosis: a case report review of the clinical presentation, diagnosis, management, and prognosis.
    Int Med Case Rep J 2016 8;9:385-387. Epub 2016 Dec 8.
    Department of Pathology, Virginia College of Osteopathic Medicine-Virginia Tech, Blacksburg, VA, USA.
    Background: While blood transfusions are commonly used for prophylaxis and treatment for acute chest syndromes and strokes in sickle cell patients, accumulation of excess iron resulting in secondary hemochromatosis remains a rare disease. Chelation is the mainstay for preventing and treating iron overload to deter potential end-organ damages; it is rare when therapy fails.

    Case Report: A 52-year-old African American woman with chronic anemia secondary to sickle cell anemia and history of multiple blood transfusions presented with elevated serum ferritin (8000 ng/mL) and bilirubin (16. Read More

    Dental pigmentation and hemochromatosis: A case report.
    Quintessence Int 2017 ;48(2):155-159
    The causes of dental pigmentation are diverse. It can be classified in intrinsic or extrinsic depending on the origin and location of the stain in the affected tooth. This report presents an unusual case of dental pigmentation and enamel loss where the diagnosis of its origin revealed an underlying systemic pathology, unknown to the patient, which could have affected the development of the pigmentation. Read More

    Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis.
    Redox Biol 2016 Dec 1;11:157-169. Epub 2016 Dec 1.
    Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal; Department of Pathology and Oncology, Faculty of Medicine, University of Porto, Porto, Portugal; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal; Centro Hospitalar de São João, Porto, Portugal.
    Background And Aims: In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload. Read More

    GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
    Blood Cells Mol Dis 2016 Nov 12;63:15-20. Epub 2016 Nov 12.
    Department of Epidemiology, University of California, Irvine, CA 92697, USA.
    Background: GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. Read More

    White blood cells and subtypes in HFE p.C282Y and wild-type homozygotes in the Hemochromatosis and Iron Overload Screening Study.
    Blood Cells Mol Dis 2016 Nov 12;63:9-14. Epub 2016 Nov 12.
    Southern Iron Disorders Center, Birmingham, AL, USA; Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address:
    The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p. Read More

    The plasma membrane metal-ion transporter ZIP14 contributes to nontransferrin-bound iron uptake by human β-cells.
    Am J Physiol Cell Physiol 2017 Feb 30;312(2):C169-C175. Epub 2016 Nov 30.
    Food Science and Human Nutrition Department, University of Florida, Gainesville, Florida
    The relationship between iron and β-cell dysfunction has long been recognized as individuals with iron overload display an increased incidence of diabetes. This link is usually attributed to the accumulation of excess iron in β-cells leading to cellular damage and impaired function. Yet, the molecular mechanism(s) by which human β-cells take up iron has not been determined. Read More

    Angiocrine Bmp2 signaling in murine liver controls normal iron homeostasis.
    Blood 2017 Jan 30;129(4):415-419. Epub 2016 Nov 30.
    Department of Dermatology, Venereology and Allergology, Center of Excellence in Dermatology.
    Microvascular endothelial cells (ECs) display a high degree of phenotypic and functional heterogeneity among different organs. Organ-specific ECs control their tissue microenvironment by angiocrine factors in health and disease. Liver sinusoidal endothelial cells (LSECs) are uniquely differentiated to fulfill important organ-specific functions in development, under homeostatic conditions, and in regeneration and liver pathology. Read More

    Text Mining Genotype-Phenotype Relationships from Biomedical Literature for Database Curation and Precision Medicine.
    PLoS Comput Biol 2016 Nov 30;12(11):e1005017. Epub 2016 Nov 30.
    National Center for Biotechnology Information (NCBI), National Library of Medicine (NLM), National Institutes of Health (NIH), Bethesda, Maryland, United States of America.
    The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature. Read More

    Calcium pyrophosphate deposition disease and associated medical co-morbidities: A national cross-sectional study of us veterans.
    Arthritis Care Res (Hoboken) 2016 Nov 29. Epub 2016 Nov 29.
    Division of Rheumatology, Department of Medicine, University of Wisconsin, Madison and the William S Middleton VA Medical Center, Madison, WI, 53705.
    Objective: Calcium pyrophosphate crystal deposition disease (CPDD) is a common cause of acute and chronic arthritis, yet there are few large epidemiologic studies of CPDD. We sought to characterize CPDD in the national Veterans Affairs (VA) population.

    Methods: Patients with International Classification of Diseases, ninth revision (ICD-9) codes for CPDD seen at any VA medical center from 2010 through 2014 were matched by age and gender with control patients without CPDD, using data from the Department of Veterans Affairs Corporate Data Warehouse. Read More

    Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis.
    Int J Hematol 2016 Nov 28. Epub 2016 Nov 28.
    CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, No. 11 Beiyitiao, Zhongguancun, Beijing, 100190, China.
    Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups. Read More

    Association of HFE gene mutations with nonalcoholic fatty liver disease in the Iranian population.
    Cell Mol Biol (Noisy-le-grand) 2016 Oct 31;62(12):123-128. Epub 2016 Oct 31.
    Department of Molecular Medicine, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    To determine whether the HFE gene variants H63D and C282Y are associated with NAFLD in persons with type 2 diabetes, we conducted a case-control study including 145 case of NAFLD patients with a history of type 2 diabetes and 145 matching control. The genomic DNA was extracted from the peripheral venous blood and the genotyping of HFE gene mutations was analyzed using the PCR-RFLP technique. Statistical analysis was performed using SPSS 12. Read More

    Deferasirox pharmacokinetics evaluation in a woman with hereditary haemochromatosis and heterozygous β-thalassaemia.
    Biomed Pharmacother 2016 Dec 20;84:1510-1512. Epub 2016 Nov 20.
    Department of Medical Sciences, Unit of Infectious Diseases, University of Turin, Amedeo di Savoia Hospital, Corso Svizzera 164, 10149, Turin, Italy.
    We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software. Read More

    Q fever hepatitis and endocarditis in the context of haemochromatosis.
    BMJ Case Rep 2016 Nov 9;2016. Epub 2016 Nov 9.
    Center for Family Medicine, Sioux Falls, South Dakota, USA.
    Hereditary haemochromatosis is associated with increased susceptibility to some infections. We report here a case of Q fever in a patient with coexistent haemochromatosis. The literature is reviewed in regard to the effect of haemochromatosis on susceptibility to infectious disease in general and Q fever in particular. Read More

    An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis.
    Placenta 2016 Dec 12;48:49-55. Epub 2016 Oct 12.
    Inflammation Pathology, Department of Pathology and Host Defense, Faculty of Medicine, Kagawa University, 1750-1, Ikenobe, Mikicho, Kitagun, Kagawa Prefecture 761-0793, Japan.
    Introduction: Neonatal hemochromatosis (NH) is a rare neonatal disorder that results in liver cirrhosis with hemosiderin deposition in the liver and other organs, similarly to hereditary hemochromatosis. Excess iron is transferred from the mother to fetus through the placenta in NH. We examined the expression of iron metabolism-related substances in placental syncytiotrophoblasts (STB) by immunostaining to clarify how the transfer of iron through STB increases in NH. Read More

    [Gestational alloimmune liver disease: a case report].
    Arch Argent Pediatr 2016 Dec;114(6):e408-e412
    Hospital Infantil Miguel Servet, Zaragoza, España.
    Gestational alloimmune liver disease, previously known as neonatal hemochromatosis, is characterized by severe liver disease in neonatal period, associated with intra and extrahepatic iron accumulation. It is postulated an alloimmune origin, which has opened new opportunities in the treatment and prevention during risk pregnancies, changing the prognosis of this pathology. We report the case of a newborn that presents early liver failure, with clinical and analytical features compatible with gestational alloimmune liver disease. Read More

    Therapeutic potential of hepcidin - the master regulator of iron metabolism.
    Pharmacol Res 2017 Jan 17;115:242-254. Epub 2016 Nov 17.
    BIOCEV, First Faculty of Medicine, Charles University, Prague, Czechia; Institute of Hematology and Blood Transfusion, Prague, Czechia.
    Iron is an essential biogenic element for both prokaryotic and eukaryotic cells. In humans iron is present in hundreds of different metalloproteins. The peptide hormone hepcidin serves as a master regulator of iron homeostasis on the level of single cells and whole organism - by altering cell surface expression of cellular iron exporter - protein ferroportin. Read More

    Endothelial cells produce bone morphogenetic protein 6 required for iron homeostasis in mice.
    Blood 2017 Jan 18;129(4):405-414. Epub 2016 Nov 18.
    Program in Anemia Signaling Research, Division of Nephrology, Program in Membrane Biology, and.
    Bone morphogenetic protein 6 (BMP6) signaling in hepatocytes is a central transcriptional regulator of the iron hormone hepcidin that controls systemic iron balance. How iron levels are sensed to regulate hepcidin production is not known, but local induction of liver BMP6 expression by iron is proposed to have a critical role. To identify the cellular source of BMP6 responsible for hepcidin and iron homeostasis regulation, we generated mice with tissue-specific ablation of Bmp6 in different liver cell populations and evaluated their iron phenotype. Read More

    Iron overload patients with unknown etiology from national survey in Japan.
    Int J Hematol 2016 Nov 15. Epub 2016 Nov 15.
    Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1, Midorigaoka-Higashi, Asahikawa, Hokkaido, 078-8510, Japan.
    Transfusion is believed to be the main cause of iron overload in Japan. A nationwide survey on post-transfusional iron overload subsequently led to the establishment of guidelines for iron chelation therapy in this country. To date, however, detailed clinical information on the entire iron overload population in Japan has not been fully investigated. Read More

    Movement Disorders Associated With Hemochromatosis.
    Can J Neurol Sci 2016 Nov;43(6):801-808
    1Department of Clinical Neurological Sciences,Western University,London,ON,Canada.
    Background: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders.

    Methods: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. Read More

    Iron Overload and Platelet Function Defects: Possible Correlation.
    J Investig Med High Impact Case Rep 2016 Oct-Dec;4(4):2324709616675645. Epub 2016 Oct 26.
    King Salman Armed Forces Hospital, Tabuk, Kingdom of Saudi Arabia.
    Acquired platelet function defect might be a consequence of iron overload. Even though there are various complications of iron overload, only few reports have indicated some correlations with platelets dysfunction. We report a child with Diamond-Blackfan anemia who has significant complications from iron overload due to chronic blood transfusion, and one of these complications is acquired platelet function defect that manifests with frequent episodes of epistaxis. Read More

    [Elevated liver enzymes].
    Dtsch Med Wochenschr 2016 Oct 4;141(22):1640-1646. Epub 2016 Nov 4.
    Elevated liver enzymes are a frequent finding in both symptomatic and asymptomatic patients necessitating further evaluation to clarify the underlying disease. Three different patterns of increased liver enzymes can be defined to allow for a more precise and rational further diagnostic approach. A predominant increase in transaminase activities reflects a disturbance of hepatocellular integrity which can be found in patients with viral hepatitis, genetic liver diseases like Wilson`s disease or hemochromatosis, and drug-induced liver diseases. Read More

    Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population.
    Medicina (Kaunas) 2016 3;52(5):269-275. Epub 2016 Oct 3.
    Institute for Digestive Research, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania; Department of Gastroenterology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
    Background And Objective: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. Read More

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