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Hemochromatosis

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https://www.readbyqxmd.com/read/27915113/white-blood-cells-and-subtypes-in-hfe-p-c282y-and-wild-type-homozygotes-in-the-hemochromatosis-and-iron-overload-screening-study
#1
James C Barton, J Clayborn Barton, Ronald T Acton
The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27903529/angiocrine-bmp2-signaling-in-murine-liver-controls-normal-iron-homeostasis
#2
Philipp-Sebastian Koch, Victor Olsavszky, Friederike Ulbrich, Carsten Sticht, Alexandra Demory, Thomas Leibing, Thomas Henzler, Mathias Meyer, Johanna Zierow, Sven Schneider, Katja Breitkopf-Heinlein, Haristi Gaitantzi, Bradley Spencer-Dene, Bernd Arnold, Kay Klapproth, Kai Schledzewski, Sergij Goerdt, Cyrill Géraud
Microvascular endothelial cells (EC) display a high degree of phenotypic and functional heterogeneity among different organs. Organ-specific EC control their tissue microenvironment by angiocrine factors in health and disease. Liver sinusoidal EC (LSEC) are uniquely differentiated to fulfil important organ-specific functions in development, under homeostatic conditions, and in regeneration and liver pathology. Recently, Bmp2 has been identified by us as an organ-specific angiokine derived from LSEC. To study angiocrine Bmp2 signaling in the liver, we conditionally deleted Bmp2 in LSEC using EC subtype-specific Stab2-Cre mice...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27902695/text-mining-genotype-phenotype-relationships-from-biomedical-literature-for-database-curation-and-precision-medicine
#3
Ayush Singhal, Michael Simmons, Zhiyong Lu
The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature...
November 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27899459/sudden-severe-bleeding-in-a-patient-with-hemochromatosis-liver-failure-or-something-else
#4
Nicholas J Olson, Mark A Cervinski, Deborah L Ornstein
No abstract text is available yet for this article.
December 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27898996/calcium-pyrophosphate-deposition-disease-and-associated-medical-co-morbidities-a-national-cross-sectional-study-of-us-veterans
#5
Crystal Kleiber Balderrama, Ann K Rosenthal, Daniel Lans, Jasvinder A Singh, Christie M Bartels
OBJECTIVE: Calcium pyrophosphate crystal deposition disease (CPDD) is a common cause of acute and chronic arthritis, yet there are few large epidemiologic studies of CPDD. We sought to characterize CPDD in the national Veterans Affairs (VA) population. METHODS: Patients with International Classification of Diseases, ninth revision (ICD-9) codes for CPDD seen at any VA medical center from 2010 through 2014 were matched by age and gender with control patients without CPDD, using data from the Department of Veterans Affairs Corporate Data Warehouse...
November 29, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27896572/identification-of-novel-mutations-in-hfe-hfe2-tfr2-and-slc40a1-genes-in-chinese-patients-affected-by-hereditary-hemochromatosis
#6
Yongwei Wang, Yali Du, Gang Liu, Shanshan Guo, Bo Hou, Xianyong Jiang, Bing Han, Yanzhong Chang, Guangjun Nie
Hereditary hemochromatosis (HH) is a group of inherited iron-overload disorders associated with pathogenic defects in the genes encoding hemochromatosis (HFE), hemojuvelin (HJV/HFE2), hepcidin (HAMP), transferrin receptor 2 (TfR2), and ferroportin (FPN1/SLC40A1) proteins, and the clinical features are well described. However, there have been only a few detailed reports of HH in Chinese populations. Thus, there is insufficient patient information for population-based analyses in Chinese populations or comparative studies among different ethical groups...
November 28, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27871472/an-immunohistochemical-study-of-placental-syncytiotrophoblasts-in-neonatal-hemochromatosis
#7
Aiko Shimono, Yuko Imoto, Haruhiko Sakamoto, Yoichi Chiba, Koichi Matsumoto, Machi Kawauchi, Takashi Kusaka, Hirokazu Tanaka, Toshiyuki Hata, Yoshio Kushida, Masaki Ueno
INTRODUCTION: Neonatal hemochromatosis (NH) is a rare neonatal disorder that results in liver cirrhosis with hemosiderin deposition in the liver and other organs, similarly to hereditary hemochromatosis. Excess iron is transferred from the mother to fetus through the placenta in NH. We examined the expression of iron metabolism-related substances in placental syncytiotrophoblasts (STB) by immunostaining to clarify how the transfer of iron through STB increases in NH. METHODS: Immunostaining was performed using formalin-fixed, paraffin-embedded sections of placentae from three NH cases, four gestational age-matched controls, and, depending on the antibody examined, five to seven full-term controls...
December 2016: Placenta
https://www.readbyqxmd.com/read/27869421/-gestational-alloimmune-liver-disease-a-case-report
#8
Sara Laliena Aznar, Inés Martínez Redondo, María J Oliván Del Cacho, María Martínez Del Moral, Raquel Pinillos Pisón
Gestational alloimmune liver disease, previously known as neonatal hemochromatosis, is characterized by severe liver disease in neonatal period, associated with intra and extrahepatic iron accumulation. It is postulated an alloimmune origin, which has opened new opportunities in the treatment and prevention during risk pregnancies, changing the prognosis of this pathology. We report the case of a newborn that presents early liver failure, with clinical and analytical features compatible with gestational alloimmune liver disease...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27867027/therapeutic-potential-of-hepcidin-the-master-regulator-of-iron-metabolism
#9
REVIEW
Daniel Vyoral, Jiri Petrak
Iron is an essential biogenic element for both prokaryotic and eukaryotic cells. In humans iron is present in hundreds of different metalloproteins. The peptide hormone hepcidin serves as a master regulator of iron homeostasis on the level of single cells and whole organism - by altering cell surface expression of cellular iron exporter - protein ferroportin. Altered levels of extracellular hepcidin lead to pathological conditions such as hemochromatosis and iron loading or, on the other side, iron restrictive anemias...
November 17, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27864295/endothelial-cells-produce-bone-morphogenetic-protein-6-required-for-iron-homeostasis-in-mice
#10
Susanna Canali, Kimberly B Zumbrennen-Bullough, Amanda B Core, Chia-Yu Wang, Manfred Nairz, Richard Bouley, Filip K Swirski, Jodie L Babitt
Bone morphogenetic protein (BMP)6 signaling in hepatocytes is a central transcriptional regulator of the iron hormone hepcidin to control systemic iron balance. How iron levels are sensed to regulate hepcidin production is not known, but local induction of liver BMP6 expression by iron is proposed to have a critical role. To identify the cellular source of BMP6 responsible for hepcidin and iron homeostasis regulation, we generated mice with tissue specific ablation of Bmp6 in different liver cell populations and evaluated their iron phenotype...
November 18, 2016: Blood
https://www.readbyqxmd.com/read/27848180/iron-overload-patients-with-unknown-etiology-from-national-survey-in-japan
#11
Katsuya Ikuta, Mayumi Hatayama, Lynda Addo, Yasumichi Toki, Katsunori Sasaki, Yasuaki Tatsumi, Ai Hattori, Ayako Kato, Koichi Kato, Hisao Hayashi, Takahiro Suzuki, Masayoshi Kobune, Miyuki Tsutsui, Akihiko Gotoh, Yasuo Aota, Motoo Matsuura, Yuzuru Hamada, Takahiro Tokuda, Norio Komatsu, Yutaka Kohgo
Transfusion is believed to be the main cause of iron overload in Japan. A nationwide survey on post-transfusional iron overload subsequently led to the establishment of guidelines for iron chelation therapy in this country. To date, however, detailed clinical information on the entire iron overload population in Japan has not been fully investigated. In the present study, we obtained and studied detailed clinical information on the iron overload patient population in Japan. Of 1109 iron overload cases, 93.1% were considered to have occurred post-transfusion...
November 15, 2016: International Journal of Hematology
https://www.readbyqxmd.com/read/27827297/movement-disorders-associated-with-hemochromatosis
#12
Niraj Kumar, Philippe Rizek, Bekim Sadikovic, Paul C Adams, Mandar Jog
BACKGROUND: Hereditary hemochromatosis (HH) is a genetic disorder causing pathological iron deposition and functional impairment of various organs, predominantly the liver. We assessed patients with HH for the presence of movement disorders. METHODS: We reviewed the charts of 616 patients with HH who attended hemochromatosis clinic at London Health Sciences Centre, London, ON, Canada, from 1988 to 2015. RESULTS: We found three HH patients with movement disorders, without any other major systemic manifestation...
November 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27824421/-elevated-liver-enzymes
#13
Axel Holstege
Elevated liver enzymes are a frequent finding in both symptomatic and asymptomatic patients necessitating further evaluation to clarify the underlying disease. Three different patterns of increased liver enzymes can be defined to allow for a more precise and rational further diagnostic approach. A predominant increase in transaminase activities reflects a disturbance of hepatocellular integrity which can be found in patients with viral hepatitis, genetic liver diseases like Wilson`s disease or hemochromatosis, and drug-induced liver diseases...
October 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27816425/association-of-hfe-gene-c282y-and-h63d-mutations-with-liver-cirrhosis-in-the-lithuanian-population
#14
Simonas Juzėnas, Juozas Kupčinskas, Irena Valantienė, Jolanta Šumskienė, Vitalija Petrenkienė, Jūrate Kondrackienė, Laimutis Kučinskas, Gediminas Kiudelis, Jurgita Skiecevičienė, Limas Kupčinskas
BACKGROUND AND OBJECTIVE: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population...
2016: Medicina
https://www.readbyqxmd.com/read/27807848/properties-of-donated-red-blood-cell-components-from-patients-with-hereditary-hemochromatosis
#15
Caroline Sut, Hind Hamzeh-Cognasse, Sandrine Laradi, Vincent Bost, Christine Aubrège, Sophie Acquart, Martine Vignal, Nadia Boutahar, Charles Antoine Arthaud, Marie Ange Eyraud, Bruno Pozzetto, Pierre Tiberghien, Olivier Garraud, Fabrice Cognasse
BACKGROUND: Red blood cells (RBCs) contain large amounts of iron, and periodic therapeutic phlebotomy is thus the main treatment for hereditary hemochromatosis (HH). However, the donation of therapeutic phlebotomy products from asymptomatic patients for transfusion purposes remains controversial. In this study, we compared the quality of RBCs obtained from HH patients with those of non-HH RBCs, within the allowed 42-day storage period. STUDY DESIGN AND METHODS: RBCs were obtained from HH patient donors and random regular blood donors by whole blood collection...
November 2, 2016: Transfusion
https://www.readbyqxmd.com/read/27796941/hepatic-porphyria-a-narrative-review
#16
REVIEW
Sumant Arora, Steven Young, Sudha Kodali, Ashwani K Singal
Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT)...
October 31, 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/27793552/herpes-simplex-virus-type-1-hsv-1-specific-t-cell-generation-from-hla-a1-and-hla-a2-positive-donors-for-adoptive-immunotherapy
#17
Chun K K Ma, Leighton Clancy, Shivashni Deo, Emily Blyth, Kenneth P Micklethwaite, David J Gottlieb
BACKGROUND AIMS: Herpes simplex virus (HSV) reactivation and infection is common in patients undergoing hematopoietic stem cell transplant (HSCT) and requires routine antiviral prophylaxis. Drug-resistant strains are increasingly common, and effective alternative therapy is currently unavailable. We generated and characterized HSV-1-specific T cells for use in adoptive cellular immunotherapy following allogeneic stem cell transplantation. METHODS: Peripheral blood mononuclear cells from HLA-A1 and HLA-A2 HSV-seropositive hereditary hemochromatosis donors were used as the antigen source...
October 25, 2016: Cytotherapy
https://www.readbyqxmd.com/read/27789107/successful-treatment-of-iron-overload-cardiomyopathy-in-hereditary-hemochromatosis-with-deferoxamine-and-deferiprone
#18
Lydie Tauchenová, Barbora Křížová, Miloš Kubánek, Soňa Fraňková, Vojtěch Melenovský, Jaroslav Tintěra, Dana Kautznerová, Jana Malušková, Milan Jirsa, Josef Kautzner
There is scarce evidence regarding the use of iron chelators in patients with hereditary hemochromatosis who are intolerant of phlebotomy or erythrocytapheresis. A 52-year-old man with genetically confirmed HFE hemochromatosis presented with liver disease and heart failure with severe left ventricular systolic dysfunction. Because of anemia after initial treatment, we added intravenous deferoxamine followed by oral deferiprone to less frequent erythrocytapheresis, which normalized systolic function within 1 year...
July 28, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27787922/bone-health-in-patients-with-hematopoietic-disorders-of-bone-marrow-origin-systematic-review-and-meta-analysis
#19
Kieran Steer, Mariya Stavnichuk, Martin Morris, Svetlana V Komarova
Blood cell production and bone homeostasis are physically interlinked systems that exhibit active cross-talk. We examined how bone health is affected in patients with hematopoietic disorders due to abnormal proliferation of bone marrow cells. The electronic databases Medline, Embase, PubMed, BIOSIS Previews, Web of Science, and Cochrane were searched for studies presenting numerical values for trabecular bone volume or bone mineral density in control and patients with hematopoietic disorders. We identified 5 studies for beta-thalassemia, 6 for sickle cell anemia, 2 for polycythemia vera and essential thrombocythemia, 3 for chronic myelogenous leukemia, 6 for myelofibrosis, 5 for multiple myeloma, and 4 studies each for systemic mastocytosis, lymphocytic leukemia, and hemochromatosis...
October 27, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27784128/hfe-p-c282y-homozygosity-predisposes-to-rapid-serum-ferritin-rise-after-menopause-a-genotype-stratified-cohort-study-of-hemochromatosis-in-australian-women
#20
Charles D Warne, Sophie G Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, John L Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin
BACKGROUND AND AIM: Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably due to the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p...
October 26, 2016: Journal of Gastroenterology and Hepatology
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