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    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 May 17. 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 May 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 Apr 29. 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. Electronic address:
    Purpose: Liver iron accumulates in various chronic liver diseases where it is an independent factor of survival and cancerogenesis. We here tested a novel room-temperature susceptometer (RTS) to noninvasively assess liver iron concentration (LIC).

    Materials And Methods: 264 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 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 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

    Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene.
    Eur J Med Genet 2017 Jun 28;60(6):308-311. 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 22. Epub 2017 Mar 22.
    Department of Pathology (Division of Experimental Pathology), University of Pittsburgh, Pennsylvania, United States; Pittsburgh Liver Research Center, University of Pittsburgh, Pennsylvania, United States; Department of Medicine (Division of Gastroenterology, Hepatology and Nutrition), University of Pittsburgh, Pennsylvania, United States. 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). Treatment options for iron-induced damage are limited, partly because there is lack of animal models of human disease. Therefore, we investigated the effect of iron overload in liver-specific β-catenin knockout mice (KO), which are susceptible to injury, fibrosis and tumorigenesis following chemical carcinogen exposure. Read More

    Identification of new BMP6 pro-peptide mutations in patients with iron overload.
    Am J Hematol 2017 Jun 29;92(6):562-568. Epub 2017 Apr 29.
    Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy; Veneto Region Referral Center for Iron Disorders, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
    Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least five 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

    Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?
    Hum Mol Genet 2017 May;26(10):1966-1978
    Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, and Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, and the David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
    Genetic variants contribute to normal variation of iron-related traits and may also cause clinical syndromes of iron deficiency or excess. Iron overload and deficiency can adversely affect human health. For example, elevated iron storage is associated with increased diabetes risk, although mechanisms are still being investigated. 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 Jun 15;21 Suppl 1:S47-S57. 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.
    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. We systematically reviewed the literature on the role of genetic risk factors on iron metabolism in hemodialysis. Read More

    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 May 9;102(5):809-817. Epub 2017 Mar 9.
    Molecular Medicine Partnership Unit (MMPU), 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

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