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    1 OF 203

    Duodenal cytochrome b (Cybrd1) ferric reductase functional studies in cells.
    Metallomics 2017 Sep 22. Epub 2017 Sep 22.
    King's College London, Department of Nutritional Sciences, Faculty of Life Sciences and Medicine, Franklin-Wilkins Building, 150 Stamford Street, London, SE1 9NH, UK.
    Dietary non-heme ferric iron is reduced by the ferric reductase enzyme, duodenal cytochrome b (Dcytb), before absorption by the divalent metal transporter 1 (DMT1). A single nucleotide polymorphism (SNP rs10455 mutant) that is located in the last exon of the Dcytb gene was reported in C282Y haemochromatosis HFE subjects. The present work therefore investigated the phenotype of this mutant Dcytb in Chinese hamster ovary (CHO) cells. Read More

    Serpinb3 is overexpressed in the liver in presence of iron overload.
    J Investig Med 2017 Sep 20. Epub 2017 Sep 20.
    Veneto Institute of Oncology, IOV-IRCCS, Padua, Italy.
    Iron overload results in cellular toxicity, tissue injury, organ fibrosis and increased risk of neoplastic transformation. SerpinB3 is a serine protease inhibitor overexpressed in the liver in oxidative stress conditions, able to induce fibrosis and increased risk of malignant transformation. Aim of the present study was to assess the effect of iron overload on SerpinB3 expression in the liver using in vivo and in vitro models. Read More

    Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
    Medicine (Baltimore) 2017 Sep;96(38):e8064
    aLiver Research Center, Beijing Key Laboratory of Translational Medicine in Liver Cirrhosis, Beijing Friendship Hospital, Capital Medical University bNational Clinical Research Center for Digestive Diseases cExperimental Center, Beijing Friendship Hospital, Capital Medical University; Beijing, China.
    Rationale: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. Read More

    New targeted therapies and diagnostic methods for iron overload diseases.
    Front Biosci (Schol Ed) 2018 Jan 1;10:1-20. Epub 2018 Jan 1.
    Postgraduate Research Institute of Science, Technology, Environment and Medicine Limassol, Cyprus, Greece,
    Millions of people worldwide suffer from iron overload toxicity diseases such as transfusional iron overload in thalassaemia and hereditary haemochromatosis. The accumulation and presence of toxic focal iron deposits causing tissue damage can also be identified in Friedreich's ataxia, Alzheimer's, Parkinson's, renal and other diseases. Different diagnostic criteria of toxicity and therapeutic interventions apply to each disease of excess or misplaced iron. Read More

    Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity.
    Digit J Ophthalmol 2017 13;23(1):11-15. Epub 2017 Feb 13.
    Atlantis Eye Care, Huntington Beach, California.
    Deferoxamine is a commonly used chelating agent for secondary hemochromatosis. We report a rare retinal manifestation of deferoxamine toxicity in a 68-year-old man and provide supporting multimodal imaging and electrophysiology. The patient had iron overload related to transfusion-dependent myelodysplastic syndrome and developed a pseudovitelliform macular lesion related to deferoxamine toxicity. Read More

    Diagnosis and quantification of the iron overload through Magnetic resonance.
    Radiologia 2017 Sep 15. Epub 2017 Sep 15.
    Servicio de Radiología, Hospital Universitario Donostia, San Sebastián, España.
    There are different magnetic resonance techniques and models to quantify liver iron concentration. T2 relaxometry methods evaluate the iron concentration in the myocardium, and they are able to discriminate all the levels of iron overload in the liver. Signal intensity ratio methods saturate with high levels of liver overload and can not assess iron concentration in the myocardium but they are more accessible and are very standardized. Read More

    SERUM FERRITIN CONCENTRATION IS NOT A RELIABLE BIOMARKER OF IRON OVERLOAD DISORDER PROGRESSION OR HEMOCHROMATOSIS IN THE SUMATRAN RHINOCEROS (DICERORHINUS SUMATRENSIS).
    J Zoo Wildl Med 2017 Sep;48(3):645-658
    The aim of this study was to determine if ferritin is a reliable biomarker of iron overload disorder (IOD) progression and hemochromatosis in the Sumatran rhinoceros (Dicerorhinus sumatrensis) by developing a species-specific ferritin assay and testing historically banked samples collected from rhinos that did and did not die of hemochromatosis. Ferritin extracted from Sumatran rhino liver tissue was used to generate antibodies for the Enzyme Immunoassay. Historically banked Sumatran rhino serum samples (n = 298) obtained from six rhinos in US zoos (n = 290); five rhinos at the Sumatran Rhino Conservation Centre in Sungai Dusun, Malaysia (n = 5); and two rhinos in Sabah, Malaysia (n = 3) were analyzed for ferritin concentrations. Read More

    Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.
    Circ Res 2017 Sep;121(7):819-837
    From the Division of Hematology (E.M., M.A.G.) and Department of Cardiovascular Medicine (L.A.B.), Mayo Clinic, Rochester, MN.
    Restrictive cardiomyopathy (RCM) is characterized by nondilated left or right ventricle with diastolic dysfunction. The restrictive cardiomyopathies are a heterogenous group of myocardial diseases that vary according to pathogenesis, clinical presentation, diagnostic evaluation and criteria, treatment, and prognosis. In this review, an overview of RCMs will be presented followed by a detailed discussion on 3 major causes of RCM, for which tailored interventions are available: cardiac amyloidosis, cardiac sarcoidosis, and cardiac hemochromatosis. Read More

    Reassessing the Safety Concerns of Utilizing Blood Donations from Patients with Hemochromatosis.
    Hepatology 2017 Sep 13. Epub 2017 Sep 13.
    Department of Medicine, Division of Liver Diseases, Recanati/Miller Transplantation Institute, Mount Sinai Medical Center, New York, NY.
    Hereditary hemochromatosis (HH) is a genetic disorder of iron metabolism which may lead to iron overload. Clinical penetrance is low, however those afflicted may develop cirrhosis, hepatocellular carcinoma, diabetes mellitus and cardiomyopathy. Treatment involves regular phlebotomy to reduce the systemic iron burden. Read More

    Fertility challenges for women with sickle cell disease.
    Expert Rev Hematol 2017 Sep 11:1-11. Epub 2017 Sep 11.
    b Department of Obstetrics & Gynecology , Duke University , Durham , NC , USA.
    Introduction: Sickle cell disease (SCD) represents one of the most common monogenic blood disorders worldwide, with an incidence of over 300,000 newborns affected per year. Reproductive challenges for men and women with SCD have been previously reviewed; however, evidence-based strategies to prevent and manage infertility and increase fecundity are lacking in women with SCD, which is one of the most important factors for quality of life. Areas covered: This review article summarizes the known risk factors for infertility, low fecundity, and premature menopause related to SCD. Read More

    Hepcidin is regulated by promoter-associated histone acetylation and HDAC3.
    Nat Commun 2017 Sep 1;8(1):403. Epub 2017 Sep 1.
    MRC Human Immunology Unit, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK.
    Hepcidin regulates systemic iron homeostasis. Suppression of hepcidin expression occurs physiologically in iron deficiency and increased erythropoiesis but is pathologic in thalassemia and hemochromatosis. Here we show that epigenetic events govern hepcidin expression. Read More

    Cystathionine β-synthase is required for body iron homeostasis.
    Hepatology 2017 Aug 31. Epub 2017 Aug 31.
    School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, NT, Hong Kong.
    Cystathionine β-synthase (CBS) catalyzes the transsulfuration pathway and contributes, among other functions, to the generation of hydrogen sulfide (H2 S). In view of the exceptionally high expression of CBS in the liver and the common interleukin-6 (IL-6) pathway utilized in the regulatory systems of H2 S and hepcidin, we speculate that CBS is involved in body iron homeostasis. We found that CBS knock-out (CBS(-/-) ) mice exhibited anemia and a significant increase in iron content in the serum, liver, spleen and heart, along with severe damage to the liver, displaying a hemochromatosis-like phenotype. Read More

    Association of exposure to manganese and iron with relaxation rates R1 and R2*- magnetic resonance imaging results from the WELDOX II study.
    Neurotoxicology 2017 Aug 25. Epub 2017 Aug 25.
    Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr-Universität Bochum (IPA), Bochum, Germany.
    Objective: Magnetic resonance imaging is a non-invasive method that allows the indirect quantification of manganese (Mn) and iron (Fe) accumulation in the brain due to their paramagnetic features. The WELDOX II study aimed to explore the influence of airborne and systemic exposure to Mn and Fe on the brain deposition using the relaxation rates R1 and R2* as biomarkers of metal accumulation in regions of interest in 161 men, including active and former welders.

    Material And Methods: We obtained data on the relaxation rates R1 and R2* in regions that included structures within the globus pallidus (GP), substantia nigra (SN), and white matter of the frontal lobe (FL) of both hemispheres, as well as Mn in whole blood (MnB), and serum ferritin (SF). Read More

    Hemochromatosis as Junctional Tachycardia, a Rare Presentation.
    Clin Pract 2017 Jun 3;7(3):979. Epub 2017 Aug 3.
    Department of Cardiology, Abington Jefferson Health, Abington, PA, USA.
    We present here a 45-year-old male with no past medical problem who presented with palpitations. He was found to have supraventricular tachycardia intractable to medical therapy. Later his rhythm converted to junctional tachycardia. Read More

    MicroRNA Expression Analysis in Serum of Patients with Congenital Hemochromatosis and Age-Related Macular Degeneration (AMD).
    Med Sci Monit 2017 Aug 22;23:4050-4060. Epub 2017 Aug 22.
    Department of Eye Diseases, Medical University of Łódź, Łódź, Poland.
    BACKGROUND Congenital hemochromatosis is a disorder caused by mutations of genes involved in iron metabolism, leading to increased levels of iron concentration in tissues and serum. High concentrations of iron can lead to the development of AMD. The aim of this study was to analyze circulating miRNAs in the serum of congenital hemochromatosis patients with AMD and their correlation with the expression of genes involved in iron metabolism. Read More

    Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
    Transfus Clin Biol 2017 Aug 17. Epub 2017 Aug 17.
    Inserm UMR1078, faculté de médecine et des sciences de la santé, université Bretagne Loire-université de Bretagne Occidentale, IBSAM, IBRBS, 22, rue Camille-Desmoulins, 29200 Brest, France; Laboratory of Excellence GR-Ex, institut Imagine, 24, boulevard du Montparnasse, 75015, Paris, France; Laboratoire de génétique moléculaire et histocompatibilité, hôpital Morvan, CHRU de Brest, 2, avenue Foch, 29200 Brest, France; Établissement français du sang, Bretagne, site de Brest, 46 rue Félix-Le-Dantec, 29200 Brest, France.
    Genetic medicine applied to the study of hemochromatosis has identified the systemic loop controlling iron homeostasis, centered on hepcidin-ferroportin interaction. Current challenges are to dissect the molecular pathways underlying liver hepcidin synthesis in response to circulatory iron, HFE, TFR2, HJV, TMPRSS6 and BMP6 functions, and to define the major structural elements of hepcidin-ferroportin interaction. We built a first 3D model of human ferroportin structure, using the crystal structure of EmrD, a bacterial drug efflux transporter of the Major Facilitator Superfamily, as template. Read More

    Bmp2 controls iron homeostasis in mice independent of Bmp6.
    Am J Hematol 2017 Aug 17. Epub 2017 Aug 17.
    Program in Anemia Signaling Research, Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA.
    Hepcidin is a key iron regulatory hormone that controls expression of the iron exporter ferroportin to increase the iron supply when needed to support erythropoiesis and other essential functions, but to prevent the toxicity of iron excess. The bone morphogenetic protein (BMP)-SMAD signaling pathway, through the ligand BMP6 and the co-receptor hemojuvelin, is a central regulator of hepcidin transcription in the liver in response to iron. Here, we show that dietary iron loading has a residual ability to induce Smad signaling and hepcidin expression in Bmp6-/- mice, effects that are blocked by a neutralizing BMP2/4 antibody. Read More

    Hemojuvelin regulates the innate immune response to peritoneal bacterial infection in mice.
    Cell Discov 2017 15;3:17028. Epub 2017 Aug 15.
    The First Affiliated Hospital, Institute of Translational Medicine, School of Public Health, Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, School of Medicine, Zhejiang University, Hangzhou, China.
    Hereditary hemochromatosis and iron imbalance are associated with susceptibility to bacterial infection; however, the underlying mechanisms are poorly understood. Here, we performed in vivo bacterial infection screening using several mouse models of hemochromatosis, including Hfe (Hfe(-/-) ), hemojuvelin (Hjv(-/-) ), and macrophage-specific ferroportin-1 (Fpn1(fl/fl) ;LysM-Cre(+) ) knockout mice. We found that Hjv(-/-) mice, but not Hfe(-/-) or Fpn1(fl/fl) ;LysM-Cre(+) mice, are highly susceptible to peritoneal infection by both Gram-negative and Gram-positive bacteria. Read More

    Subjects at Risk for Genetic Late-Onset Neurological Diseases: Objective Knowledge.
    Public Health Genomics 2017 17;20(3):158-165. Epub 2017 Aug 17.
    Universidade Europeia, Laureate International Universities, Lisbon, Portugal.
    Background/aims: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD).

    Methods: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?."

    Results: From 10 categories of answers, references to the disease, quantitative answers, references to the family, and metaphors stood out. Read More

    Clinical and Laboratory Associations with Persistent Hyperferritinemia in 373 Black Hemochromatosis and Iron Overload Screening Study Participants.
    Ann Hepatol 2017 Sep-Oct;16(5):802-811
    University of Western Ontario, London, Ontario, Canada Department of Medicine.
    Background: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 μg/L men; > 200 μg/L women).

    Material And Methods: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units. Liver disease was defined as elevated ALT or AST. Read More

    Association of exposure to manganese and iron with striatal and thalamic GABA and other neurometabolites - Neuroimaging results from the WELDOX II study.
    Neurotoxicology 2017 Aug 11. Epub 2017 Aug 11.
    Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr-Universität Bochum (IPA), Bochum, Germany.
    Objective: Magnetic resonance spectroscopy (MRS) is a non-invasive method to quantify neurometabolite concentrations in the brain. Within the framework of the WELDOX II study, we investigated the association of exposure to manganese (Mn) and iron (Fe) with γ-aminobutyric acid (GABA) and other neurometabolites in the striatum and thalamus of 154 men.

    Material And Methods: GABA-edited and short echo-time MRS at 3T was used to assess brain levels of GABA, glutamate, total creatine (tCr) and other neurometabolites. Read More

    [Hfeprotein impact on iron metabolism].
    Dev Period Med 2017 ;21(2):85-90
    Katedra Fizjoterapii, Akademia Wychowania Fizycznego i Sportu w Gdańsku, Polska.
    Hereditary hemochromatosis type 1 is an autosomal recessive disorder caused by HFE gene mutations, which is an iron homeostasis metabolism controlling co-factor. Adults with male predomination present with clinical symptoms derived by iron overload in organs. The phenotype expression is individual with an influence of individual and environmental factors. Read More

    Antenatal Treatment with Intravenous Immunoglobulin to Prevent Gestational Alloimmune Liver Disease: Comparative Effectiveness of 14-Week versus 18-Week Initiation.
    Fetal Diagn Ther 2017 Aug 5. Epub 2017 Aug 5.
    Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
    Background: Antenatal therapy with high-dose intravenous immunoglobulin (IVIG) may prevent gestational alloimmune liver disease (GALD).

    Objective: The objective of this study was to determine the effectiveness of this approach in a large cohort of women at risk for poor pregnancy outcome due to GALD.

    Methods: Women with a history of affected offspring were provided antenatal IVIG treatment and data were acquired prospectively from 1997 to 2015. Read More

    Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes.
    Genet Med 2017 Aug 3. Epub 2017 Aug 3.
    Department of Gut and Liver, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
    Iron overload (hemochromatosis) can cause serious, symptomatic disease that is preventable if detected early and managed appropriately. The leading cause of hemochromatosis in populations of predominantly European ancestry is homozygosity of the C282Y variant in the HFE gene. Screening of adults for iron overload or associated genotypes is controversial, largely because of a belief that severe phenotypes are uncommon, although cascade testing of first-degree relatives of patients is widely endorsed. Read More

    Ferritin light chain gene mutations in two Brazilian families with hereditary hyperferritinemia-cataract syndrome.
    Einstein (Sao Paulo) 2017 Jul 24. Epub 2017 Jul 24.
    Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
    Hereditary hyperferritinemia-cataract syndrome is an autosomal dominant genetic disorder associated with mutations in the 5'UTR region of the ferritin light chain gene. These mutations cause the ferritin levels to increase even in the absence of iron overload. Patients also develop bilateral cataract early due to accumulation of ferritin in the lens, and many are misdiagnosed as having hemochromatosis and thus not properly treated. Read More

    HFE gene polymorphism defined by sequence-based typing of the Brazilian population and a standardized nomenclature for HFE allele sequences.
    HLA 2017 Oct 4;90(4):238-242. Epub 2017 Aug 4.
    Division of Clinical Immunology, Department of Medicine, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirão Preto, 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: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) 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 Sep 8;24(3):115-119. Epub 2017 Jul 8.
    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 Aug 19;213(8):874-881. 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

    The Effect of Iron Status on Risk of Coronary Artery Disease: A Mendelian Randomization Study-Brief Report.
    Arterioscler Thromb Vasc Biol 2017 Sep 6;37(9):1788-1792. Epub 2017 Jul 6.
    From the Imperial College Healthcare NHS Trust, London, United Kingdom (D.G., M.A.L.); Department of Clinical Pharmacology and Therapeutics (D.G.), Department of Haematology (M.A.L.), and Department of Population Health and Occupational Disease (C.M.), Imperial College London, United Kingdom; Institute for Biomedicine, Eurac Research, Bolzano, Italy (F.D.G.M.); and Centre for Cardiovascular Genetics (A.P.W.), and Division of Biosciences (S.K.S.S.), University College London, United Kingdom.
    Objective: Iron status is a modifiable trait that has been implicated in cardiovascular disease. This study uses the Mendelian randomization technique to investigate whether there is any causal effect of iron status on risk of coronary artery disease (CAD).

    Approach And Results: A 2-sample Mendelian randomization approach is used to estimate the effect of iron status on CAD risk. 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 Nov 5;77(7):477-485. 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 Aug;14(4):321-330
    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 Oct 21;244:226-228. 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 Oct 23;454:135-145. 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 Sep 15;153(3):678-680.e2. Epub 2017 Jun 15.
    Department of Internal Medicine, Division of Gastroenterology and Hepatology, Maastricht UMC+, 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:
    Phlebotomy constitutes the established treatment for HFE-related hemochromatosis. Retrospective studies have suggested proton pump inhibitors (PPIs) reduce the need for phlebotomy in this population. We conducted a randomized controlled trial to prove this. Read More

    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
    PLoS One 2017 15;12(6):e0179369. Epub 2017 Jun 15.
    CNRS, University Bordeaux, UMR5095 Institut de Biochimie et Génétique Cellulaires, Bordeaux, France.
    Background: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. Read More

    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 haemochromatosis patients. A case-series study.
    J Clin Periodontol 2017 Sep 17;44(9):892-897. Epub 2017 Aug 17.
    INSERM, CIC 1414, Rennes, France.
    Aim: To investigate the association between periodontal status and serum biomarkers in patients with HFE haemochromatosis.

    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

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