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    HFE gene polymorphism defined by sequence based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
    HLA 2017 Jul 20. Epub 2017 Jul 20.
    Division of Clinical Immunology, Department of Medicine, School of Medicine of Ribeirao Preto, University of Sao Paulo, Brazil.
    The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: i) H63D C > G in exon 2, ii) IVS2 (+4) T > C in intron 2, iii) a C > G transversion in intron 3, iv) C282Y G > A in exon 4, v) IVS4 (-44) T > C in intron 4, and vi) a new Guanine deletion (G > del) in intron 5, which were used for haplotype inference. Read More

    Iron overload exacerbates age-associated cardiac hypertrophy in a mouse model of hemochromatosis.
    Sci Rep 2017 Jul 18;7(1):5756. Epub 2017 Jul 18.
    Department of Pharmaceutical Sciences, Northeastern University, Boston, MA, USA.
    Cardiac damage associated with iron overload is the most common cause of morbidity and mortality in patients with hereditary hemochromatosis, but the precise mechanisms leading to disease progression are largely unexplored. Here we investigated the effects of iron overload and age on cardiac hypertrophy using 1-, 5- and 12-month old Hfe-deficient mice, an animal model of hemochromatosis in humans. Cardiac iron levels increased progressively with age, which was exacerbated in Hfe-deficient mice. Read More

    Hypogonadotropic hypogonadism in men with hereditary hemochromatosis.
    Basic Clin Androl 2017 8;27:13. Epub 2017 Jul 8.
    Laboratoire de Biologie de la Reproduction, CECOS Lorraine, CHU Nancy, Nancy, France.
    Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Read More

    Iron metabolism: State of the art.
    Transfus Clin Biol 2017 Jul 7. Epub 2017 Jul 7.
    Laboratory of Excellence GR-Ex, Sorbonne-Paris-Cité university, Paris-Diderot university, Inserm U1149/ERL 8252, Center of Research on Inflammation (CRI), Paris, France. Electronic address:
    Iron homeostasis relies on the amount of its absorption by the intestine and its release from storage sites, the macrophages. Iron homeostasis is also dependent on the amount of iron used for the erythropoiesis. Hepcidin, which is synthesized predominantly by the liver, is the main regulator of iron metabolism. Read More

    15 years of the histopathological synovitis score, further development and review: A diagnostic score for rheumatology and orthopaedics.
    Pathol Res Pract 2017 May 19. Epub 2017 May 19.
    MVZ Fürstenberg-Karree, Berlin, Germany.
    The histopathological synovitis score evaluates the immunological and inflammatory changes of synovitis in a graduated manner generally customary for diagnostic histopathological scores. The score results from semiquantitative evaluation of the width of the synovial surface cell layer, the cell density of the stroma and the density of the inflammatory infiltration into 4 semiquantitative levels (normal 0, mild 1, moderate 2, severe 3). The addition of these values results in a final score of 0-9 out of 9. Read More

    Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets.
    Scand J Clin Lab Invest 2017 Jul 5:1-9. Epub 2017 Jul 5.
    d HUNT Research Centre, Department of Public Health and General Practice, Faculty of Medicine , Norwegian University of Science and Technology , Trondheim , Norway.
    Iron loading in p.C282Y homozygous HFE hemochromatosis subjects is highly variable, and it is unclear what factors cause this variability. Finding such factors could aid in predicting which patients are at highest risk and require closest follow-up. Read More

    Therapeutic Strategies Targeting Inherited Cardiomyopathies.
    Curr Heart Fail Rep 2017 Jun 28. Epub 2017 Jun 28.
    Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, 9500 Euclid Avenue, Desk J3-4, Cleveland, OH, 44195, USA.
    Purpose Of Review: Cardiomyopathies due to genetic mutations are a heterogeneous group of disorders that comprise diseases of contractility, myocardial relaxation, and arrhythmias. Our goal here is to discuss a limited list of genetically inherited cardiomyopathies and the specific therapeutic strategies used to treat them.

    Recent Findings: Research into the molecular pathophysiology of the development of these cardiomyopathies is leading to the development of novel treatment approaches. Read More

    Heart and heart-liver transplantation in patients with hemochromatosis.
    Int J Cardiol 2017 Jun 21. Epub 2017 Jun 21.
    Advanced Heart Failure and Transplantation Center, Harrington Heart and Vascular Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, United States.
    Background: Hemochromatosis predisposes to dilated or restrictive cardiomyopathy which can progress to end-stage heart failure, requiring the use of advanced heart therapies including heart (HT) and heart liver (HLT) transplantation. Little is known about the characteristics and outcomes of these patients.

    Methods And Results: We queried the United Network for Organ Sharing (UNOS) registry for all patients listed for HT or HLT for a diagnosis of 'hemochromatosis' between 1987 and 2014. Read More

    Iron overload induces hypogonadism in male mice via extrahypothalamic mechanisms.
    Mol Cell Endocrinol 2017 Jun 23. Epub 2017 Jun 23.
    Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, 20133 Milan, Italy.
    Introduction: Iron overload leads to multiple organ damage including endocrine organ dysfunctions. Hypogonadism is the most common non-diabetic endocrinopathy in primary and secondary iron overload syndromes.

    Aim: To explore the molecular determinants of iron overload-induced hypogonadism with specific focus on hypothalamic derangements. Read More

    Inclusion bodies of aggregated hemosiderins in liver macrophages.
    Med Mol Morphol 2017 Jun 19. Epub 2017 Jun 19.
    Department of Medicine, Aichi Gakuin University School of Pharmacy, Nagoya, Japan.
    Hemosiderin formation is a structural indication of iron overload. We investigated further adaptations of the liver to excess iron. Five patients with livers showing iron-rich inclusions larger than 2 µm were selected from our database. Read More

    Proton pump inhibitors decrease phlebotomy need in HFE hemochromatosis: double-blind randomized placebo-controlled trial.
    Gastroenterology 2017 Jun 14. Epub 2017 Jun 14.
    Maastricht UMC+, Department of Internal Medicine, Division of Gastroenterology and Hepatology, the Netherlands; Nutrition and Translational Research in Metabolism (NUTRIM), University Maastricht, The Netherlands; Department of surgery, University Hospital of the RWTH, Aachen, Germany. Electronic address:

    Haemochromatosis: evaluating the effectiveness of a novel patient self-management approach to venesection as blood donation.
    N Z Med J 2017 Jun 16;130(1457):26-33. Epub 2017 Jun 16.
    Medical Director, New Zealand Blood Service, Auckland.
    Aim: We set out to evaluate the effectiveness of a new model of self management of haemochromatosis, whereby patients with stable ferritin control were discharged from the New Zealand Blood Service (NZBS) therapeutic venesection clinic and educated to manage their own venesection by regular blood donation and annual serum ferritin check by their general practitioner.

    Method: Data regarding the frequency of blood donation and serum ferritin level were collected from the NZBS and Concerto records of haemochromatosis patients in the Wellington region who had been discharged back to the care of their general practitioner between January 2014 and June 2015.

    Results: Of the 107 patients, 93% continued to donate blood after discharge. Read More

    Hemochromatosis and blood donation.
    Transfus Apher Sci 2017 Jun 18;56(3):485-489. Epub 2017 May 18.
    Department of Biological Sciences Aalesund, Faculty of Natural Sciences and Technology, The Norwegian University of Science and Technology (NTNU) in Aalesund, PB1517, N-6025 Aalesund, Norway.
    The voluntary, unpaid, altruistic blood donor is a cornerstone of current transfusion medicine. The complexity of medical and ethical issues related to blood donation and hemochromatosis has led to a large number of studies related to the safety of the hemochromatosis donor and the quality of the blood components produced from these donations. The issue of accepting persons with HC as blood donors is diverting, both in Europe and worldwide and without joint guidelines. Read More

    Periodontal status and serum biomarker levels in HFE hemochromatosis patients. A case series study.
    J Clin Periodontol 2017 Jun 6. Epub 2017 Jun 6.
    INSERM, CIC 1414, F-35033, Rennes, France.
    Aim: To investigate the association between periodontal status and serum biomarkers in patients with HFE hemochromatosis.

    Material And Methods: This clinical case series included 84 HFE-C282Y homozygous patients. Periodontal evaluation was performed using clinical attachment level, probing depth, gingival bleeding index, visible plaque index and gingival index. Read More

    Combination curcumin and vitamin E treatment attenuates diet-induced steatosis in Hfe(-/-) mice.
    World J Gastrointest Pathophysiol 2017 May;8(2):67-76
    Mandy Heritage, Lesley Jaskowski, Kim Bridle, Laurence Britton, V Nathan Subramaniam, Darrell Crawford, School of Medicine, The University of Queensland, Brisbane 4120, Australia.
    Aim: To investigate the synergistic hepato-protective properties of curcumin and vitamin E in an Hfe(-/-) high calorie diet model of steatohepatitis.

    Methods: Hfe(-/-) C57BL/6J mice were fed either a high calorie diet or a high calorie diet with 1 mg/g curcumin; 1.5 mg/g vitamin E; or combination of 1 mg/g curcumin + 1. Read More

    A Mouse Model of Cardiomyopathy Induced by Mutations in the Hemochromatosis HFE Gene.
    Can J Cardiol 2017 Jul 15;33(7):904-910. Epub 2017 Mar 15.
    IRMES-Institute for Research in bioMedicine and Epidemiology of Sport, Paris, France; GR-Ex, Paris Descartes University, Sorbonne Paris Cité, Paris, France; EA 7329, Paris Descartes University, Sorbonne Paris Cité, Paris, France; National Institute of Sport, Expertise, and Performance-INSEP, Paris, France. Electronic address:
    Background: The heart is 1 of the organs most affected by hereditary hemochromatosis (HH). The clinical impact of cardiomyopathy in patients with HH requires a particular diagnosis and less invasive treatments. We developed a model of cardiomyopathy in knockout (KO) mice for the high-Fe (HFE) gene and assessed left ventricular (LV) function and structure from 7-20 months. Read More

    Design and chemical syntheses of potent matriptase-2 inhibitors based on trypsin inhibitor SFTI-1 isolated from sunflower seeds.
    Biopolymers 2017 May 27. Epub 2017 May 27.
    Department of Molecular Biochemistry, Faculty of Chemistry University of Gdansk, ul. Wita Stwosza 63, 80-308, Gdansk, Poland.
    Matriptase-2 plays a pivotal role in keeping iron concentrations within a narrow physiological range in humans. The opportunity to reduce matriptase-2 proteolytic activity may open a novel possibility to treat iron overload diseases, such as hereditary hemochromatosis and thalassemia. Here, we present 23 new analogues of trypsin inhibitor SFTI-1 designed to inhibit human matriptase-2. Read More

    An unusual presentation of seborrheic keratoses in a man with hereditary hemochromatosis.
    Dermatol Online J 2017 Apr 15;23(4). Epub 2017 Apr 15.
    School of Medicine, University of California San Diego, La Jolla, California.
    Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes. Read More

    Hyperferritinemia and inflammation.
    Int Immunol 2017 May 25. Epub 2017 May 25.
    Department of Critical Care Medicine, University of Pittsburgh, Pittsburgh, PA, USA. Present Address: Division of Pediatric Critical Care Medicine, Suite 2000 Faculty Pavilion Children's Hospital of Pittsburgh, 4400 Penn Avenue, Pittsburgh, PA, USA.
    Understanding of ferritin biology has traditionally centered on its role in iron storage and homeostasis, with low ferritin levels indicative of deficiency and high levels indicative of primary or secondary hemochromatosis. However, further work has shown that iron, redox biology and inflammation are inexorably linked. During infection, increased ferritin levels represent an important host defense mechanism that deprives bacterial growth of iron and protect immune cell function. Read More

    Altered Erythropoiesis in Mouse Models of Type 3 Hemochromatosis.
    Biomed Res Int 2017 2;2017:2408941. Epub 2017 May 2.
    Department of Clinical and Biological Sciences, AOU San Luigi Gonzaga, University of Torino, Orbassano, Torino, Italy.
    Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Read More

    HFE genotype affects exosome phenotype in cancer.
    Biochim Biophys Acta 2017 Aug 17;1861(8):1921-1928. Epub 2017 May 17.
    Department of Neurosurgery, Pennsylvania State University, College of Medicine, Hershey, PA 17033, United States. Electronic address:
    Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Read More

    Modeling the dynamics of mouse iron body distribution: hepcidin is necessary but not sufficient.
    BMC Syst Biol 2017 May 18;11(1):57. Epub 2017 May 18.
    Center for Quantitative Medicine and Department of Cell Biology, UConn Health, Farmington, CT, 06030, USA.
    Background: Iron is an essential element of most living organisms but is a dangerous substance when poorly liganded in solution. The hormone hepcidin regulates the export of iron from tissues to the plasma contributing to iron homeostasis and also restricting its availability to infectious agents. Disruption of iron regulation in mammals leads to disorders such as anemia and hemochromatosis, and contributes to the etiology of several other diseases such as cancer and neurodegenerative diseases. Read More

    Hepcidin: Homeostasis and Diseases Related to Iron Metabolism.
    Acta Haematol 2017 18;137(4):220-236. Epub 2017 May 18.
    Clinical Analysis Department, Health Sciences Center, Federal University of Santa Catarina (UFSC), Florianópolis, Brazil.
    Iron is an essential metal for cell survival that is regulated by the peptide hormone hepcidin. However, its influence on certain diseases is directly related to iron metabolism or secondary to underlying diseases. Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. Read More

    Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease.
    EBioMedicine 2017 Jun 29;20:230-239. Epub 2017 Apr 29.
    Department of Pediatric Hematology, Oncology and Immunology - University of Heidelberg, Im Neuenheimer Feld 350, D-69120 Heidelberg, Germany; Molecular Medicine Partnership Unit, D-69120 Heidelberg, Germany; Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), University of Heidelberg, D-69120 Heidelberg, Germany. Electronic address:
    Emerging evidence suggests that pulmonary iron accumulation is implicated in a spectrum of chronic lung diseases. However, the mechanism(s) involved in pulmonary iron deposition and its role in the in vivo pathogenesis of lung diseases remains unknown. Here we show that a point mutation in the murine ferroportin gene, which causes hereditary hemochromatosis type 4 (Slc40a1(C326S)), increases iron levels in alveolar macrophages, epithelial cells lining the conducting airways and lung parenchyma, and in vascular smooth muscle cells. Read More

    Hyperferritinemia in patients with nonalcoholic fatty liver disease.
    Rev Assoc Med Bras (1992) 2017 Mar;63(3):284-289
    Medicine and Health Graduate Program (PPgMS), Study Group on Nonalcoholic Steatohepatitis, Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Salvador, BA, Brazill.
    Objective:: In liver diseases, hyperferritinemia (HYF) is related to injured cells in acquired and genetic conditions with or without iron overload. It is frequent in patients with nonalcoholic fatty liver disease (NAFLD), in which it is necessary to define the mean of HYF to establish the better approach for them. The present study evaluated the significance of elevated ferritin in patients with NAFLD and steatohepatitis (NASH). Read More

    Sensitive and non-invasive assessment of hepatocellular iron using a novel room-temperature susceptometer.
    J Hepatol 2017 May 5. Epub 2017 May 5.
    Dept. of Medicine, Salem Medical Center and Center for Alcohol Research and Liver Disease, University of Heidelberg, Germany. Electronic address:
    Background & Aims: Liver iron accumulates in various chronic liver diseases where it is an independent factor for survival and carcinogenesis. We tested a novel room-temperature susceptometer (RTS) to non-invasively assess liver iron concentration (LIC).

    Methods: Two hundred and sixty-four patients with or without signs of iron overload or liver disease were prospectively enrolled. Read More

    The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.
    Immun Inflamm Dis 2017 Apr 19. Epub 2017 Apr 19.
    Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montréal, Québec, Canada.
    Introduction: Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation. Read More

    [Fifteen years of the histopathological synovitis score : Review and further developments of a diagnostic score].
    Z Rheumatol 2017 May 3. Epub 2017 May 3.
    Klinikum Ernst von Bergmann gemeinnützige GmbH, Potsdam, Deutschland.
    The histopathological synovitis score evaluates in a graded approach, as is largely usual for diagnostic histopathological scores, the immunological and inflammatory changes caused by synovitis. A synovitis score of between 1 and ≤ 4 is classified as low-grade (osteoarthritis-related synovitis, post-traumatic synovitis, meniscopathy-related synovitis and synovitis in hemochromatosis). Synovitis scores of between ≥ 5 and 9 are classified as high-grade synovitis (rheumatoid arthritis, psoriatic arthritis, Lyme's arthritis, post-infection/reactive arthritis and peripheral arthritis in Bechterew disease); sensitivity is 61. Read More

    Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.
    Ann Pediatr Endocrinol Metab 2017 Mar 31;22(1):60-64. Epub 2017 Mar 31.
    Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
    Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT) at 22 years of age. Read More

    Genetic and Dietary Iron Overload Differentially Affect the Course of Salmonella Typhimurium Infection.
    Front Cell Infect Microbiol 2017 11;7:110. Epub 2017 Apr 11.
    Department of Internal Medicine II, Infectious Diseases, Immunology, Rheumatology, Pneumology, Medical University of InnsbruckInnsbruck, Austria.
    Genetic and dietary forms of iron overload have distinctive clinical and pathophysiological features. HFE-associated hereditary hemochromatosis is characterized by overwhelming intestinal iron absorption, parenchymal iron deposition, and macrophage iron depletion. In contrast, excessive dietary iron intake results in iron deposition in macrophages. Read More

    Presenting Features and Prognosis of Ischemic and Nonischemic Neonatal Liver Failure.
    J Pediatr Gastroenterol Nutr 2017 May;64(5):754-759
    *Neonatology Department †Pediatric Hepatology Department ‡Pediatric Intensive Care Unit, University Hospital La Paz, Madrid, Spain.
    Objectives: To describe the epidemiological features, clinical characteristics and outcomes of neonates diagnosed with liver failure, as well as determine prognostic factors.

    Methods: Cohort study conducted at a single tertiary referral and university-affiliated pediatric center. Hospital records of all neonates diagnosed with liver failure between January 2003 and December 2015 were retrospectively reviewed, and data on clinical and laboratory findings, treatment, and outcomes were collected. Read More

    Genetic and environmental modifiers of Wilson disease.
    Handb Clin Neurol 2017 ;142:35-41
    Department of Gastroenterology and Hepatology, University Hospital of Heidelberg, Heidelberg, Germany.
    Wilson disease (WD) is characterized by remarkable variety in its phenotypic presentation. Patients with WD can present with hepatic, neurologic, and psychiatric symptoms combined in different and unpredictable ways. Importantly, no convincing phenotype-genotype correlation has ever been identified, opening the possibility that other genes, aside from ATPase copper-transporting beta (ATP7B), are involved in the pathogenesis of this condition. Read More

    GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
    Ann Hepatol 2017 May - Jun;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 Jul;39(5):e240-e243
    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 Jun 6;69(6):399-413. 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

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