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hereditary hemochromatosis

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https://www.readbyqxmd.com/read/27903529/angiocrine-bmp2-signaling-in-murine-liver-controls-normal-iron-homeostasis
#1
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/27896572/identification-of-novel-mutations-in-hfe-hfe2-tfr2-and-slc40a1-genes-in-chinese-patients-affected-by-hereditary-hemochromatosis
#2
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
#3
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/27848180/iron-overload-patients-with-unknown-etiology-from-national-survey-in-japan
#4
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
#5
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/27816425/association-of-hfe-gene-c282y-and-h63d-mutations-with-liver-cirrhosis-in-the-lithuanian-population
#6
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
#7
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
#8
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
#9
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
#10
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/27733315/molecular-pathogenesis-and-clinical-consequences-of-iron-overload-in-liver-cirrhosis
#11
Katarzyna Sikorska, Agnieszka Bernat, Anna Wroblewska
BACKGROUND: The liver, as the main iron storage compartment and the place of hepcidin synthesis, is the central organ involved in maintaining iron homeostasis in the body. Excessive accumulation of iron is an important risk factor in liver disease progression to cirrhosis and hepatocellular carcinoma. Here, we review the literature on the molecular pathogenesis of iron overload and its clinical consequences in chronic liver diseases. DATA SOURCES: PubMed was searched for English-language articles on molecular genesis of primary and secondary iron overload, as well as on their association with liver disease progression...
October 2016: Hepatobiliary & Pancreatic Diseases International: HBPD INT
https://www.readbyqxmd.com/read/27725588/hepcidin
#12
Tomas Ganz
Hepcidin is an iron-regulating peptide hormone made in the liver. It controls the delivery of iron to blood plasma from intestinal cells absorbing iron, from erythrocyte-recycling macrophages, and from iron-storing hepatocytes. Hepcidin acts by binding to and inactivating the sole cellular iron exporter, ferroportin, which delivers iron to plasma from all iron-transporting cells. In a classical endocrine feedback system, hepcidin production is stimulated by plasma iron and iron stores. Reflecting a likely role of hepcidin in innate immunity, hepcidin is also induced by inflammation...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27721733/therapeutic-depletion-of-iron-stores-is-not-associated-with-a-reduced-hemoglobin-mass-in-a-hemochromatosis-patient
#13
Nina Wrobel, Torben Pottgiesser, Philipp Birkner, Peter Deibert, Christoph Ahlgrim
INTRODUCTION: Hereditary hemochromatosis features a dysregulated iron absorption leading to iron overload and organ damage. The regulation of total hemoglobin mass during depletion of iron deposits by therapeutic phlebotomy has not been studied. CASE PRESENTATION: The initial ferritin level of the 52-year-old male subject was 1,276 μg/l. Despite successful depletion of iron stores (ferritin<Sub>min</Sub>: 53 μg/l) through phlebotomies, total hemoglobin mass stabilized at the pretherapy level...
May 2016: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/27686443/-a-novel-mutation-in-slc40a1-gene-in-hereditary-hemochromatosis-in-china
#14
J Meng, L L Liu, X Y Wen
No abstract text is available yet for this article.
October 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27667161/next-generation-sequencing-of-hereditary-hemochromatosis-related-genes-novel-likely-pathogenic-variants-found-in-the-portuguese-population
#15
Ricardo Faria, Bruno Silva, Catarina Silva, Pedro Loureiro, Ana Queiroz, Sofia Fraga, Jorge Esteves, Diana Mendes, Rita Fleming, Luís Vieira, João Gonçalves, Paula Faustino
Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.His63Asp). However, in Southern European populations up to one third of HH patients do not carry the risk genotypes. This study aimed to explore the use of next-generation sequencing (NGS) technology to analyse a panel of iron metabolism-related genes (HFE, TFR2, HJV, HAMP, SLC40A1, and FTL) in 87 non-classic HH Portuguese patients...
October 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27662424/the-infectious-disease-blood-safety-risk-of-australian-hemochromatosis-donations
#16
Veronica Hoad, Peter Bentley, Barbara Bell, Praveen Pathak, Hiu Tat Chan, Anthony Keller
BACKGROUND: It has been suggested that blood donors with hereditary hemochromatosis may pose an increased infectious disease risk and adversely affect recipient outcomes. This study compares the infectious disease risk of whole blood (WB) donors enrolled as therapeutic (T) donors to voluntary WB donors to evaluate the safety of blood products provided by the T donors. STUDY DESIGN AND METHODS: This was a retrospective cohort study of all WB donations at the Australian Red Cross Blood Service who donated between January 1, 2011, and December 31, 2013, comparing a yearly mean of 11,789 T donors with 107,773 total donations and a yearly mean of 468,889 voluntary WB donors with 2,584,705 total donations...
September 23, 2016: Transfusion
https://www.readbyqxmd.com/read/27661980/the-d519g-polymorphism-of-glyceronephosphate-o-acyltransferase-is-a-risk-factor-for-familial-porphyria-cutanea-tarda
#17
Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
: Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for PCT. Recently, a polymorphic variant (D519G, c.1556A>G, rs11558492) of glyceronephosphate O-acyltransferase (GNPAT) was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype, suggesting that GNPAT D519G, like HFE C282Y, is a modifier of iron homeostasis that favors iron absorption...
2016: PloS One
https://www.readbyqxmd.com/read/27659401/hyperferritinemia-increases-the-risk-of-hyperuricemia-in-hfe-hereditary-hemochromatosis
#18
Jérémy Flais, Edouard Bardou-Jacquet, Yves Deugnier, Guillaume Coiffier, Aleth Perdriger, Gérard Chalès, Martine Ropert, Olivier Loréal, Pascal Guggenbuhl
OBJECTIVES: Hyperuricemia is becoming increasingly frequent in the population, and is known to be sometimes the cause of gout. The impact of uric acid is still not clearly understood, however. The iron metabolism may interact with the uric acid metabolism. The aim of this study was to examine the relationship between the serum uric acid and serum ferritin levels in a cohort of hemochromatosis patients who were homozygous for the HFE p.Cys282Tyr mutation. METHODS: 738 patients with the HFE gene mutation Cys282Tyr in the homozygous state were included in the study...
September 19, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27629970/a-novel-phenotype-of-a-hereditary-hemochromatosis-type-4-with-ferroportin-1-mutation-presenting-with-juvenile-cataracts
#19
Noriyuki Yamakawa, Kengo Oe, Naoichiro Yukawa, Kosaku Murakami, Ran Nakashima, Yoshitaka Imura, Hajime Yoshifuji, Koichiro Ohmura, Yasuo Miura, Naohisa Tomosugi, Hiroshi Kawabata, Akifumi Takaori-Kondo, Tsuneyo Mimori
Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia who was diagnosed with type 4 HH. He was heterozygous for the 1520A>G (His507Arg) mutation in the ferroportin-1 gene (SLC40A1). He had a familial cataract as an infant, but hereditary hyperferritinemia cataract syndrome was excluded...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27592149/recent-advance-in-the-molecular-genetics-of-wilson-disease-and-hereditary-hemochromatosis
#20
REVIEW
Tingxia Lv, Xiaojin Li, Wei Zhang, Xinyan Zhao, Xiaojuan Ou, Jian Huang
Metabolic liver diseases such as Wilson disease (WD) and hereditary hemochromatosis (HH) possess complicated pathogenesis and typical hereditary characteristics with the hallmarks of a deficiency in metal metabolism. Mutations in genes encoding ATPase, Cu + transporting, beta polypeptide (ATP7B) and hemochromatosis (HFE) or several non-HFE genes are considered to be causative for WD and HH, respectively. Although the identification of novel mutations in ATP7B for WD and HFE or the non-HFE genes for HH has increased, especially with the application of whole genome sequencing technology in recent years, the biological function of the identified mutations, as well as genotype-phenotype correlations remain to be explored...
October 2016: European Journal of Medical Genetics
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