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

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

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

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

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

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

    Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.
    Hereditas 2017 19;154:16. Epub 2017 Dec 19.
    Institute of Hepatology London, Foundation for Liver Research, London,SE5 9NT and Faculty of Life Sciences & Medicine, King´s College London, London, UK.
    Background: Genealogy and molecular genetic studies of a Swedish river valley population resulted in a large pedigree, showing that the hereditary hemochromatosis (HH) HFE/p.C282Y mutation is inherited with other recessive disorders such as Wilson´s disease (WND), a rare recessive disorder of copper overload. The population also contain individuals with the Swedish long QT syndrome (LQTS1) founder mutation (KCNQ1/p. Read More

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

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

    Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.
    Blood 2017 Dec 13. Epub 2017 Dec 13.
    Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, United States;
    Non-classical Ferroportin Disease is a form of hereditary hemochromatosis caused by mutations in the iron transporter ferroportin (Fpn), resulting in parenchymal iron overload. Fpn is regulated by the hormone hepcidin, which induces Fpn endocytosis and cellular iron retention. We characterized 11 clinically-relevant and 5 nonclinical Fpn mutations using stably transfected, inducible, isogenic cell lines. Read More

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

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

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

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

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

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

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

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

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

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

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

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

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

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

    The interaction of iron and the genome: For better and for worse.
    Mutat Res 2017 Oct 14;774:25-32. Epub 2017 Sep 14.
    SFR Biosit UMS CNRS 3480/US INSERM 018, Rennes, France; Institut NuMeCan, Inserm U 1241, Université de Rennes 1, Rennes, France.
    Iron, as an essential nutrient, and the DNA, as the carrier of genetic information which is physically compacted into chromosomes, are both needed for normal life and well-being. Therefore, it is not surprising that close interactions exist between iron and the genome. On the one hand, iron, especially when present in excess, may alter genome stability through oxidative stress, and may favor cell cycle abnormalities and the development of malignant diseases. Read More

    Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management.
    Presse Med 2017 Dec 20;46(12 Pt 2):e288-e295. Epub 2017 Nov 20.
    Inserm-UMR 991, 2, rue Henri-Le-Guilloux, 35033 Rennes, France.
    The term hemochromatosis (HC) corresponds to several diseases characterized by systemic iron overload of genetic origin and affecting both the quality of life and life expectancy. Major improvement in the knowledge of iron metabolism permits to divide these diseases into two main pathophysiological categories. For most HC forms (types 1, 2, 3 and 4B HC) iron overload is related to cellular hepcidin deprivation which causes an increase of plasma iron concentration and the appearance of plasma non-transferrin bound iron. Read More

    Iron induced RNA-oxidation in the general population and in mouse tissue.
    Free Radic Biol Med 2018 Feb 20;115:127-135. Epub 2017 Nov 20.
    Department of Clinical Pharmacology, Bispebjerg and Frederiksberg Hospital, Copenhagen, Denmark; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
    Iron promotes formation of hydroxyl radicals by the Fenton reaction, subsequently leading to potential oxidatively generated damage of nucleic acids. Oxidatively generated damage to RNA, measured as 8-oxo-7,8-dihydroguanosine (8-oxoGuo) in urine, is increased in patients with genetic iron overload, which have led us to test the hypothesis that high iron status, assessed by iron biomarkers and genetic disposition, increases urinary excretion of 8-oxoGuo. In a general Danish population study we used a Mendelian randomization design with HFE genotypes as a proxy for iron status and supplemented with ex vivo experiments in mice muscle tissue exposed to iron(II) sulfate to attempt to clarify this hypothesis. Read More

    Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
    Biochim Biophys Acta 2018 Feb 14;1864(2):464-470. Epub 2017 Nov 14.
    Department of Biosciences and Territory, University of Molise, Pesche, Italy. Electronic address:
    Mutations of SLC40A1 encoding ferroportin (Fpn), the unique cellular iron exporter, severely affect iron homeostasis causing type 4 hereditary hemochromatosis, an autosomal dominant iron overload condition with variable phenotypic manifestations. This disease can be classified as type 4A, better known as "ferroportin disease", which is due to "loss of function" mutations that lead to decreased iron export from cells, or as type 4B hemochromatosis, which is caused by "gain of function" mutations, conferring partial or complete resistance to hepcidin-mediated Fpn degradation. In this work, we discuss clinical and molecular findings on a group of patients in whom a SLC40A1 single copy missense variant was identified. Read More

    Iatrogenic iron overload and its potential consequences in patients on hemodialysis.
    Presse Med 2017 Dec 16;46(12 Pt 2):e312-e328. Epub 2017 Nov 16.
    University of California, Division of Nephrology and Hypertension, Irvine, USA.
    Iron overload was considered rare in hemodialysis patients until recently, but its clinical frequency is now increasingly recognized. The liver is the main site of iron storage and the liver iron concentration (LIC) is closely correlated with total iron stores in patients with secondary hemosiderosis and genetic hemochromatosis. Magnetic resonance imaging (MRI) is now the gold standard method for estimating and monitoring LIC. Read More

    Diagnosis of hyperferritinemia in routine clinical practice.
    Presse Med 2017 Dec 20;46(12 Pt 2):e329-e338. Epub 2017 Nov 20.
    CHU de Dijon, hôpital du Bocage, 2, boulevard du Maréchal-de-Lattre-de-Tassigny, BP 77908, 21079 Dijon cedex, France.
    The discovery of hyperferritinemia is often fortuitous, revealed in results from a laboratory screening or follow-up test. The aim of the diagnostic procedure is therefore to identify its cause and to identify or rule out hepatic iron overload, in a three-stage process. In the first step, clinical findings and several simple laboratory tests are sufficient to detect four of the most frequent causes of high ferritin concentrations: alcoholism, inflammatory syndrome, cytolysis, and metabolic syndrome. Read More

    Iron and infection.
    Int J Hematol 2018 Jan 16;107(1):7-15. Epub 2017 Nov 16.
    CHS 52-243, Departments of Medicine and Pathology, David Geffen School of Medicine, University of California, 10833 Le Conte Ave., Los Angeles, CA, 90095, USA.
    Iron is an essential trace metal for nearly all infectious microorganisms, and host defense mechanisms target this dependence to deprive microbes of iron. This review highlights mechanisms that are activated during infections to restrict iron on mucosal surfaces, in plasma and extracellular fluid, and within macrophages. Iron overload disorders, such as hereditary hemochromatosis or β-thalassemia, interfere with iron-restrictive host responses, and thereby cause increased susceptibility to infections with microbes that can exploit this vulnerability. Read More

    [Diagnosis of haemochromatosis].
    Ned Tijdschr Geneeskd 2017 ;161(0):D1438
    Reinier de Graaf Gasthuis, Delft.
    Interpretation of laboratory parameters in cases of haemochromatosis can be difficult. Here, we describe two patients with markedly elevated transferrin saturation and high ferritin levels. The first patient is a 51-year-old woman who had been complaining of fatigue, abdominal pain and arthritis for three years. Read More

    The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
    Int J Hematol 2018 Jan 13;107(1):31-43. Epub 2017 Nov 13.
    Department of Hematology and Immunology, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa-ken, 920-0293, Japan.
    Hereditary hemochromatosis (HH) is a group of genetic iron overload disorders that manifest with various symptoms, including hepatic dysfunction, diabetes, and cardiomyopathy. Classic HH type 1, which is common in Caucasians, is caused by bi-allelic mutations of HFE. Severe types of HH are caused by either bi-allelic mutations of HFE2 that encodes hemojuvelin (type 2A) or HAMP that encodes hepcidin (type 2B). Read More

    Iron metabolism and the role of the iron-regulating hormone hepcidin in health and disease.
    Presse Med 2017 Dec 10;46(12 Pt 2):e272-e278. Epub 2017 Nov 10.
    University Sorbonne Paris Cité, Paris Diderot University, Laboratory of Excellence GR-Ex, Inflammation Research Center (CRI), Inserm U1149/ERL 8252, Paris, France. Electronic address:
    Although iron is vital, its free form is likely to be involved in oxidation-reduction reactions, leading to the formation of free radicals and oxidative stress. Living organisms have developed protein systems to transport free iron through the cell membranes and biological fluids and store it in a non-toxic and readily mobilizable form to avoid iron toxicity. Hepcidin plays a crucial role in maintaining iron homeostasis. Read More

    MRI ankle and subtalar characteristics in haemochromatosis arthropathy: a case-control study.
    Clin Radiol 2017 Nov 7. Epub 2017 Nov 7.
    Department of Rheumatology, St George's University Hospitals NHS Foundation Trust, UK. Electronic address:
    Aim: To examine the magnetic resonance imaging (MRI) features of the ankle and subtalar joints that might distinguish genetic haemochromatosis (GH).

    Materials And Methods: The present study was a retrospective case-control study comparing 30 MRI studies of GH patients with ankle or subtalar arthropathy with 30 matched controls with ankle pain. Anonymised images were scored using a semi-quantative tool adapted from the MRI osteoarthritis knee score. Read More

    Role of liver magnetic resonance imaging in hyperferritinaemia and the diagnosis of iron overload.
    Swiss Med Wkly 2017 Nov 9;147:w14550. Epub 2017 Nov 9.
    Department of Radiology, University Hospital Geneva, Switzerland.
    Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. Read More

    Associated conditions in small fiber neuropathy - a large cohort study and review of the literature.
    Eur J Neurol 2017 Nov 7. Epub 2017 Nov 7.
    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, The Netherlands.
    Background And Purpose: Small fiber neuropathy (SFN) is a common disorder leading to neuropathic pain and autonomic symptoms. The objective of this study was to investigate associated conditions in a large cohort of SFN patients and compare the prevalence to healthy individuals.

    Methods: A total of 921 patients with pure SFN were screened according to a standardized comprehensive diagnostic algorithm and compared with literature findings. Read More

    Ferroportin disease: pathogenesis, diagnosis and treatment.
    Haematologica 2017 Dec 3;102(12):1972-1984. Epub 2017 Nov 3.
    Center for Hemochromatosis, Department of Internal Medicine II, University of Modena and Reggio Emilia Policlinico, Modena, Italy
    Ferroportin Disease (FD) is an autosomal dominant hereditary iron loading disorder associated with heterozygote mutations of the ferroportin-1 (FPN) gene. It represents one of the commonest causes of genetic hyperferritinemia, regardless of ethnicity. FPN1 transfers iron from the intestine, macrophages and placenta into the bloodstream. Read More

    Expanded carrier screening in gamete donors of Venezuela.
    JBRA Assist Reprod 2017 Dec 1;21(4):356-360. Epub 2017 Dec 1.
    Unifertes Fertility Unit, Caracas, Venezuela.
    Objective: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice.

    Methods: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map. Read More

    Longitudinal changes in LIC and other parameters in patients receiving different chelation regimens: Data from LICNET.
    Eur J Haematol 2017 Nov 1. Epub 2017 Nov 1.
    Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, Palermo, Italy.
    Objectives: The liver remains the primary site of iron storage, with liver iron concentration (LIC) being a strong surrogate of total body iron. MRI-R2 can accurately measure LIC. The LICNET (Liver Iron Cutino Network) was established to diagnostics of liver iron overload by MRI-R2 subjects with hemochromatosis in hematological disorders. Read More

    Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox.
    World J Clin Cases 2017 Oct;5(10):381-383
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of Sao Paulo Medical School, São Paulo, SP 05403-900, Brazil.
    Juvenile hemochromatosis (JH) is a rare condition classified as an autosomal recessive disorder that leads to severe iron absorption. JH usually affects people under the age of 30 and presents symptoms such as chronic liver damage, hypogonadotropic hypogonadism, cardiac diseases and endocrine dysfunctions. The present case reports a 29-year-old Brazilian woman with JH condition due to HAMP mutation (g. Read More


    Optimizing the management of hereditary haemochromatosis: the value of MRI R2* quantification to predict and monitor body iron stores.
    Br J Haematol 2017 Oct 30. Epub 2017 Oct 30.
    i3S, Instituto de Investigação e Inovação em Saúde, University of Porto, IBMC, Institute for Molecular and Cell Biology, Porto, Portugal.

    The Effects of HFE Polymorphisms on Biochemical Parameters of Iron Status in Arab Beta-Thalassemia Patients.
    Indian J Hematol Blood Transfus 2017 Dec 18;33(4):545-551. Epub 2017 Jan 18.
    Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470, Sulaibekhat, Kuwait.
    In this study, the potential effect of three HFE gene polymorphisms (C282Y, H63D and S65C) and the SLC40A1 A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls. Read More

    Ethnic and genetic factors of iron status in women of reproductive age.
    Am J Clin Nutr 2017 Dec 25;106(Suppl 6):1594S-1599S. Epub 2017 Oct 25.
    Division of Nutritional Sciences, Cornell University, Ithaca, NY, and.
    Background: African Americans are at increased risk of iron deficiency (ID) but also have higher serum ferritin (SF) concentrations than those of the general population. The Hemochromatosis and Iron Overload Screening (HEIRS) Study was a multicenter study of ethnically diverse participants that tested for the hemochromatosis (HFE) C282Y genotype and iron status.Objective: We sought to determine the prevalence and predictors of ID (SF concentration ≤15 μg/L) and elevated iron stores (SF concentration >300 μg/L) in HEIRS women of reproductive age (25-44 y). Read More

    Current understanding of iron homeostasis.
    Am J Clin Nutr 2017 Dec 25;106(Suppl 6):1559S-1566S. Epub 2017 Oct 25.
    Iron Metabolism Laboratory, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia; and Schools of.
    Iron is an essential trace element, but it is also toxic in excess, and thus mammals have developed elegant mechanisms for keeping both cellular and whole-body iron concentrations within the optimal physiologic range. In the diet, iron is either sequestered within heme or in various nonheme forms. Although the absorption of heme iron is poorly understood, nonheme iron is transported across the apical membrane of the intestinal enterocyte by divalent metal-ion transporter 1 (DMT1) and is exported into the circulation via ferroportin 1 (FPN1). Read More

    Ultrasound verified inflammation and structural damage in patients with hereditary haemochromatosis-related arthropathy.
    Arthritis Res Ther 2017 Oct 24;19(1):243. Epub 2017 Oct 24.
    First Medical Department, Hanusch Hospital and Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Heinrich-Collin-Straße 30, 1140, Vienna, Austria.
    Background: Chronic arthropathy occurs in approximately two thirds of patients with hereditary haemochromatosis (HH). The aim was to study inflammatory and structural lesions in patients with HH with (HH-A) and without arthropathy (HH-WA) using ultrasonography.

    Methods: This was a cross-sectional study of 26 patients with HH-A, 24 with HH-WA and 37 with hand osteoarthritis (HOA). Read More

    Risk factors for intrahepatic and extrahepatic cholangiocarcinoma in the United States: A population-based study in SEER-Medicare.
    PLoS One 2017 19;12(10):e0186643. Epub 2017 Oct 19.
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, United States of America.
    Objectives: Intrahepatic (ICC) and extrahepatic (ECC) cholangiocarcinomas are rare tumors that arise from the epithelial cells of the bile ducts, and the etiology of both cancer types is poorly understood. Thus, we utilized the Surveillance, Epidemiology, and End Results (SEER)-Medicare resource to examine risk factors and novel preexisting medical conditions that may be associated with these cancer types.

    Methods: Between 2000 and 2011, 2,092 ICC and 2,981 ECC cases and 323,615 controls were identified using the SEER-Medicare database. Read More

    Increased Plasma Ferritin Concentration and Low-Grade Inflammation-A Mendelian Randomization Study.
    Clin Chem 2017 Oct 16. Epub 2017 Oct 16.
    Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark;
    Background: It is unknown why increased plasma ferritin concentration predicts all-cause mortality. As low-grade inflammation and increased plasma ferritin concentration are associated with all-cause mortality, we hypothesized that increased plasma ferritin concentration is genetically associated with low-grade inflammation.

    Methods: We investigated whether increased plasma ferritin concentration is associated with low-grade inflammation [i. Read More

    A Patient with Nafcillin-Associated Drug-Induced Liver Failure.
    Case Rep Gastroenterol 2017 Sep-Dec;11(3):564-568. Epub 2017 Sep 26.
    Department of Medicine, Stony Brook University Hospital, Stony Brook, New York, USA.
    Nafcillin-induced acute liver injury is a rare and potentially fatal complication that has been known since the 1960s but inadequately studied. At this time, the only proven treatment is early discontinuation of the drug. Because of the high prevalence of nafcillin class antibiotic use in the United States, it is important for clinicians to have a high clinical suspicion for this diagnosis. Read More

    Melanotic Macule in Conjunction with a Giant Cell Fibroma.
    J Contemp Dent Pract 2017 Oct 1;18(10):981-985. Epub 2017 Oct 1.
    Department of Periodontology, Lake Erie College of Osteopathic Medicine, School of Dental Medicine, Bradenton, Florida, USA, Phone: +9414051506, e-mail:
    Introduction: The aim of this study is to describe a case of a melanotic macule found in conjunction with a giant cell fibroma (GCF). For oral pigmented lesions without an identifiable etiologic factor, critical factors in determining the differential diagnosis are clinical history, symmetry, and uniformity of the lesions. Potential differential diagnosis includes racial pigmentation, endocrine disturbance, Peutz-Jeghers syndrome, trauma, hemochromatosis, oral malignant melanoma, or idiopathic etiology and melanotic macules. Read More

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