10,770 results match your criteria Hemochromatosis


Novel mutations in the bone morphogenetic protein 6 gene in patients with iron overload and non-homozygous genotype for the HFE p.Cys282Tyr mutation.

Blood Cells Mol Dis 2020 May 18;84:102444. Epub 2020 May 18.

Department of Pharmacology - Escola Paulista de Medicina, Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, Brazil. Electronic address:

Background: Five main genes are associated with hemochromatosis; however, current studies show that, in addition to these genes, others may be associated with primary iron overload (IO). One of these is the bone morphogenetic protein 6 (BMP6), which encodes a protein that modulates hepcidin synthesis and, consequently, iron homeostasis.

Aim: To identify BMP6 gene pathogenic variants in patients with IO and non-homozygous genotype for the HFE p. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102444DOI Listing

Regulation of Iron Homeostasis and Related Diseases.

Mediators Inflamm 2020 2;2020:6062094. Epub 2020 May 2.

Key Laboratory of Agro-Ecological Processes in Subtropical Region, Hunan Research Center of Livestock & Poultry Sciences, South-Central Experimental Station of Animal Nutrition and Feed Science in Ministry of Agriculture, Institute of Subtropical Agriculture, The Chinese Academy of Sciences, Changsha, Hunan 410125, China.

The liver is the organ for iron storage and regulation; it senses circulating iron concentrations in the body through the BMP-SMAD pathway and regulates the iron intake from food and erythrocyte recovery into the bloodstream by secreting hepcidin. Under iron deficiency, hypoxia, and hemorrhage, the liver reduces the expression of hepcidin to ensure the erythropoiesis but increases the excretion of hepcidin during infection and inflammation to reduce the usage of iron by pathogens. Excessive iron causes system iron overload; it accumulates in never system and damages neurocyte leading to neurodegenerative diseases such as Parkinson's syndrome. Read More

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http://dx.doi.org/10.1155/2020/6062094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212278PMC

Reduced Iron Export Associated with Hepcidin Resistance Can Explain the Iron Overload Spectrum in Ferroportin Disease.

Liver Int 2020 May 25. Epub 2020 May 25.

Department of Medicine I, Medical University and University Hospital of Innsbruck, Anichstrasse 35, A-6020, Innsbruck, Austria.

Background & Aims: Ferroportin disease (FD) and hemochromatosis type 4 (HH4) are associated with variants in the ferroportin encoding gene SLC40A1. Both phenotypes are characterized by iron overload despite being caused by distinct variants that either mediate reduced cellular iron export in FD or resistance against hepcidin-induced inactivation of ferroportin in HH4. The aim of this study was to assess if reduced iron export also confers hepcidin resistance and causes iron overload in FD associated with the R178Q variant. Read More

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http://dx.doi.org/10.1111/liv.14539DOI Listing

Porphyria Cutanea Tarda.

Clin Gastroenterol Hepatol 2020 May 21. Epub 2020 May 21.

Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.cgh.2020.05.028DOI Listing

WISP-2 expression induced by Teriparatide treatment affects in vitro osteoblast differentiation and improves in vivo osteogenesis.

Mol Cell Endocrinol 2020 May 18:110817. Epub 2020 May 18.

Department of Biomedical, Metabolic and Neural Sciences, Section of Human Morphology, University of Modena and Reggio Emilia, Modena, Italy.

The Osteocyte, recognized as a major orchestrator of osteoblast and osteoclast activity, is the most important key player during bone remodeling processes. Imbalances occurring during bone remodeling, caused by hormone perturbations or by mechanical loading alterations, can induce bone pathologies such as osteoporosis. Recently, the active fraction of parathormone, PTH (1-34) or Teriparatide (TPTD), was chosen as election treatment for osteoporosis. Read More

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http://dx.doi.org/10.1016/j.mce.2020.110817DOI Listing

MR imaging assessment and quantification of liver iron.

Abdom Radiol (NY) 2020 May 20. Epub 2020 May 20.

Radiology Department - Centro Hospitalar Universitário do Porto, Largo Prof Abel Salazar, 4099-001, Porto, Portugal.

Iron overload is a common clinical problem resulting from hereditary hemochromatosis or secondary hemosiderosis (mainly associated with transfusion therapy), being also associated with chronic liver diseases and metabolic disorders. Excess of iron accumulates in organs like the liver, pancreas and heart. Without treatment, patients with iron overload disorders will develop liver cirrhosis, diabetes and cardiomyopathy. Read More

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http://dx.doi.org/10.1007/s00261-020-02574-8DOI Listing

From Environment to Genome and Back: A Lesson from Mutations.

Int J Mol Sci 2020 May 15;21(10). Epub 2020 May 15.

General Medicine and Metabolic Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pad. Granelli, via F Sforza 35, 20122 Milan, Italy.

The environment and the human genome are closely entangled and many genetic variations that occur in human populations are the result of adaptive selection to ancestral environmental (mainly dietary) conditions. However, the selected mutations may become maladaptive when environmental conditions change, thus becoming candidates for diseases. Hereditary hemochromatosis (HH) is a potentially lethal disease leading to iron accumulation mostly due to mutations in the gene. Read More

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http://dx.doi.org/10.3390/ijms21103505DOI Listing

Metabolic iron disorder after liver transplant: Hereditary hemochromatosis in a pediatric recipient of a pediatric donor with unknown HFE C282Y homozygous mutation.

Clin Res Hepatol Gastroenterol 2020 May 14. Epub 2020 May 14.

Service d'Hépatogastroentérologie adulte, Cliniques universitaires Saint-Luc, avenue Hippocrate 10, Bruxelles, Belgique; Service de Chirurgie et Transplantation abdominale, Cliniques universitaires Saint-Luc, Bruxelles, Belgique.

We report a case of an iron overload syndrome twenty years after a liver transplantation in a patient without feature for secondary iron overload. The diagnosis of hemochromatosis with homozygous mutationC282Y in the graft was made possible with liver biopsy, using real-time PCR technique with Light-Cycler 480. Our case suggests that in case of iron overload syndrome after liver transplantation we can perform a liver biopsy with real-time PCR technique that allows us to search for the mutation of the HFE. Read More

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http://dx.doi.org/10.1016/j.clinre.2020.04.009DOI Listing

Porphyria Cutanea Tarda due to Primary Hemochromatosis.

Am J Med 2020 May 13. Epub 2020 May 13.

Department of Dermatology, Hospital del Salvador. Santiago, Chile.

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http://dx.doi.org/10.1016/j.amjmed.2020.03.053DOI Listing

Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.

BMC Pediatr 2020 May 15;20(1):222. Epub 2020 May 15.

Genomic Medicine Institute, Geisinger, Danville, PA, USA.

Background: Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled in part by a lack of empirical evidence, controversy surrounds the provision of genetic results for adult-onset conditions to minors and their parents. Read More

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http://dx.doi.org/10.1186/s12887-020-02070-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7227212PMC

Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.

BMC Med Genet 2020 May 15;21(1):108. Epub 2020 May 15.

BioMolecular Analytics, 10 Independence Blvd, Suite 140, Warren, NJ, 07059, USA.

Background: Beta (β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaigns in many countries have greatly reduced the incidence of affected child births. In contrast, much remains to be done in South-Asia. Read More

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http://dx.doi.org/10.1186/s12881-020-01017-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229588PMC

Polycythemia and Anemia in Hereditary Hemochromatosis.

Cureus 2020 Apr 9;12(4):e7607. Epub 2020 Apr 9.

Gastroenterology and Hepatology, West Virginia University School of Medicine, Morgantown, USA.

Introduction Hereditary hemochromatosis is a syndrome of dysregulated iron homeostasis resulting in the excessive deposition of iron. Hemochromatosis causes pulmonary, pancreatic, and hepatic dysfunction, all of which are risk factors for anemia in the general population. Conversely, iron overload states are thought to predispose to polycythemia. Read More

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http://dx.doi.org/10.7759/cureus.7607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7213665PMC

Metastatic breast cancer presenting as acute liver injury: diagnostic dilemma in the setting of suspected hemochromatosis.

Oxf Med Case Reports 2020 Mar 6;2020(3):omaa019. Epub 2020 May 6.

Graduate Medical Education-Internal Medicine, Northside Hospital Gwinnett, Lawrenceville, GA, USA.

A 70-year-old female with a history of lobular carcinoma of the breast, status post-mastectomy followed by adjuvant radio-chemotherapy in remission for 4 years was admitted with the features of acute liver failure (ALF). Iron studies revealed a hemochromatosis picture and the CT and MRI scans of the abdomen suggested cirrhosis. An extensive workup failed to identify an etiology. Read More

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http://dx.doi.org/10.1093/omcr/omaa019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7202048PMC

Disruption of the hepcidin/ferroportin regulatory circuitry causes low axial bone mass in mice.

Bone 2020 May 4;137:115400. Epub 2020 May 4.

Department of Medicine III, Technische Universität Dresden, Dresden, Germany; Center for Healthy Aging, Technische Universität Dresden, Dresden, Germany. Electronic address:

Ferroportin (FPN) is the only known iron exporter. Mutations conferring resistance of FPN to hepcidin-mediated degradation cause the iron overload disorder hereditary hemochromatosis type 4. While iron overload is associated with low bone mass, the mechanisms involved are not completely understood. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115400DOI Listing

Chronic exposure to excess iron promotes EMT and cancer via p53 loss in pancreatic cancer.

Asian J Pharm Sci 2020 Mar 5;15(2):237-251. Epub 2020 Mar 5.

Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.

Based on the evidence that hemochromatosis, an iron-overload disease, drives hepatocellular carcinoma, we hypothesized that chronic exposure to excess iron, either due to genetic or environmental causes, predisposes an individual to cancer. Using pancreatic cancer as our primary focus, we employed cell culture studies to interrogate the connection between excess iron and cancer, and combined and studies to explore the connection further. Ferric ammonium citrate was used as an exogenous iron source. Read More

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http://dx.doi.org/10.1016/j.ajps.2020.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193456PMC

Ferroportin disease: A novel SLC40A1 mutation.

Dig Liver Dis 2020 Apr 29. Epub 2020 Apr 29.

University of Milano-Bicocca - Department of Medicine and Surgery, Monza, Italy; Medical Genetics - ASST-Monza, S.Gerardo Hospital, Monza, Italy; Centre for Rare Diseases - Disorders of Iron Metabolism - ASST-Monza, EuroBloodNet Referral Centre, S.Gerardo Hospital, Monza, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.dld.2020.03.013DOI Listing

Genetic testing costs and compliance with clinical best practices.

J Genet Couns 2020 May 1. Epub 2020 May 1.

Department of Obstetrics and Gynecology, Naval Medical Center San Diego, San Diego, California.

We sought to determine the costs of genetic testing and compliance with published guidelines and clinical best practices at our institution. A cost analysis was performed comparing the costs of ordered tests to the cost of the recommended testing. This was an approved quality improvement project at a tertiary teaching hospital in California. Read More

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http://dx.doi.org/10.1002/jgc4.1285DOI Listing

Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report.

Mol Genet Genomic Med 2020 Apr 23:e1252. Epub 2020 Apr 23.

Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

Background: A 61-year-old woman underwent direct to consumer genetic testing and was found to be homozygous for the C282Y HFE variant (c.845G>A :p.Cys282Tyr) which is classified as pathogenic/likely pathogenic for hereditary hemochromatosis. Read More

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http://dx.doi.org/10.1002/mgg3.1252DOI Listing

Analysis of Natural Killer cell functions in patients with hereditary hemochromatosis.

EXCLI J 2020 25;19:430-441. Epub 2020 Mar 25.

Department for Immunology, Leibniz Research Centre for Working Environment and Human Factors (IfADo) at TU Dortmund, Dortmund, Germany.

Hereditary hemochromatosis (HH) is an autosomal-recessive disorder of the iron metabolism. Patients are typically affected by dysregulated iron levels, which can lead to iron accumulation within essential organs, such as liver, heart and pancreas. Furthermore, many HH patients are also afflicted by several immune defects and increased occurrence of autoimmune diseases that are linked to human homeostatic iron regulator protein (HFE) in the immune response. Read More

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http://dx.doi.org/10.17179/excli2020-1116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174573PMC

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.

Am J Case Rep 2020 Apr 24;21:e923108. Epub 2020 Apr 24.

Endocrinology Unit, University Hospital of the Federal University of Maranhão (HUUFMA), São Luís, Brazil.

BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. Read More

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http://dx.doi.org/10.12659/AJCR.923108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200091PMC

Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

ACG Case Rep J 2019 Nov 26;6(11):e00247. Epub 2019 Nov 26.

Department of Gastroenterology and Hepatology, Saint Louis University Hospital, St Louis, MO.

Porphyria cutanea tarda (PCT) is a skin disorder characterized by abnormal heme synthesis. We present a 45-year-old man with intermittent skin lesions recurring annually for years. Skin biopsy and measurement of serum heme precursors confirmed a diagnosis of PCT. Read More

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http://dx.doi.org/10.14309/crj.0000000000000247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145215PMC
November 2019

Gut leakage enhances sepsis susceptibility in iron-overloaded β-thalassemia mice through macrophage hyperinflammatory responses.

Am J Physiol Gastrointest Liver Physiol 2020 May 20;318(5):G966-G979. Epub 2020 Apr 20.

Faculty of Medicine, Department of Microbiology, Chulalongkorn University, Bangkok, Thailand.

Iron overload induces intestinal-permeability defect (gut leakage), and gut translocation of organismal molecules might enhance systemic inflammation and sepsis severity in patients with thalassemia (Thal). Hence, iron administration in Hbb mice, heterozygous β-globin-deficient Thal mice, was explored. Oral iron administration induced more severe secondary hemochromatosis and gut leakage in Thal mice compared with wild-type (WT) mice. Read More

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http://dx.doi.org/10.1152/ajpgi.00337.2019DOI Listing

Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.

Biosci Rep 2020 May;40(5)

Institute of Health and Biomedical Innovation and School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, Queensland, Australia.

Mutations in the only known iron exporter ferroportin (FPN) in humans are associated with the autosomal dominantly inherited iron overload disorder ferroportin disease or type IV hereditary hemochromatosis (HH). While our knowledge of the central role of FPN in iron homeostasis has grown in the last 20 years, there exist some questions surrounding the structure and membrane topology of FPN with conflicting data on whether this receptor acts as a monomer or a multimer. To investigate and determine if FPN dimerization occurs in cells, we used novel tools including a variety of different FPN constructs expressing different tagged versions of the protein, a novel antibody that only detects cell surface FPN and proximity ligation assays. Read More

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http://dx.doi.org/10.1042/BSR20191499DOI Listing

Lytic cell death in metabolic liver disease.

J Hepatol 2020 Apr 13. Epub 2020 Apr 13.

Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal. Electronic address:

Regulated cell death is intrinsically associated with inflammatory liver disease and is pivotal in governing outcomes of metabolic liver disease. Different types of cell death may coexist as metabolic liver disease progresses to inflammation, fibrosis, and ultimately cirrhosis. In addition to apoptosis, lytic forms of hepatocellular death, such as necroptosis, pyroptosis and ferroptosis elicit strong inflammatory responses due to cell membrane permeabilisation and release of cellular components, contributing to the recruitment of immune cells and activation of hepatic stellate cells. Read More

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http://dx.doi.org/10.1016/j.jhep.2020.04.001DOI Listing

Viral eradication restores normal iron status in chronic hepatitis C patients with abnormal iron studies.

Ann Hepatol 2020 Mar 17. Epub 2020 Mar 17.

Department of Internal Medicine, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA, United States; Iowa City Veterans Administration Medical Center, Iowa City, IA, United States; Free Radical and Radiation Biology Program, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA, United States. Electronic address:

Introduction And Objectives: Abnormal serum iron studies are seen in a third or more of patients with chronic hepatitis C infection (HCV), where they have been linked to accelerated fibrosis progression and increased risk of hepatocellular carcinoma and sometimes lead to concern for coexisting hereditary hemochromatosis. The aim of this study was to assess the effect of HCV eradication in patients with abnormal serum iron studies prior to treatment with direct-acting antiviral agents (DAAs).

Patients: HCV-infected subjects with iron studies obtained before and after successful treatment with DAAs were identified (n=27). Read More

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http://dx.doi.org/10.1016/j.aohep.2020.03.002DOI Listing

Bull's eye maculopathy associated with hereditary hemochromatosis.

Am J Ophthalmol Case Rep 2020 Jun 20;18:100674. Epub 2020 Mar 20.

Casey Eye Institute, Oregon Health & Science University, 515 SW Campus Drive, Portland, OR, 97239, USA.

Purpose: To report a case of bull's eye maculopathy, a novel finding in a patient with iron overload secondary to hereditary hemochromatosis with a homozygous mutation of the gene.

Observations: A 39-year-old man with recently diagnosed hereditary hemochromatosis undergoing treatment by serial phlebotomy presented with bilateral progressive blurry vision and recent onset of photopsias and headaches. Fundus examination revealed a symmetric bull's eye maculopathy with photoreceptor loss and retinal pigment epithelium transmission defects in the area of speckled hyper- and hypo-pigmentation by multimodal imaging. Read More

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http://dx.doi.org/10.1016/j.ajoc.2020.100674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7109569PMC

Inherited iron overload disorders.

Transl Gastroenterol Hepatol 2020 5;5:25. Epub 2020 Apr 5.

Centre for Rare Diseases, Disorder of Iron Metabolism, ASST-Monza, S. Gerardo Hospital, Monza, Italy.

Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage. Systemic forms are characterized by increased serum ferritin with or without high transferrin saturation, and with or without functional iron deficient anemia. Read More

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http://dx.doi.org/10.21037/tgh.2019.11.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063521PMC

Hemochromatosis As an Unusual Cause of Pancreatitis in an African-American Female of Child-bearing Age.

Cureus 2020 Mar 4;12(3):e7179. Epub 2020 Mar 4.

Gastroenterology and Hepatology, Cleveland Clinic Foundation, Cleveland, USA.

Hemochromatosis is a disorder of iron overload whereby there is toxic deposition of iron in various tissues and organs of the body. It can either be hereditary or secondary to some other underlying cause. Patients with mutations in the HFE gene are often predisposed to developing this disorder. Read More

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http://dx.doi.org/10.7759/cureus.7179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7123287PMC

Hereditary hemochromatosis disrupts uric acid homeostasis and causes hyperuricemia via altered expression/activity of xanthine oxidase and ABCG2.

Biochem J 2020 Apr;477(8):1499-1513

Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX 79430, U.S.A.

Hereditary hemochromatosis (HH) is mostly caused by mutations in the iron-regulatory gene HFE. The disease is associated with iron overload, resulting in liver cirrhosis/cancer, cardiomegaly, kidney dysfunction, diabetes, and arthritis. Fe2+-induced oxidative damage is suspected in the etiology of these symptoms. Read More

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http://dx.doi.org/10.1042/BCJ20190873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200644PMC

Idiopathic brain calcification in a patient with hereditary hemochromatosis.

BMC Neurol 2020 Mar 30;20(1):113. Epub 2020 Mar 30.

Internal Medicine Unit and Centre for Hemochromatosis and Heredometabolic Liver Diseases, EuroBloodNet Referral Center for Iron Disorders, Policlinico, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy.

Background: Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease. Idiopathic or secondary brain calcification can be also associated with neurological involvement and brain-MRI T2/T2*GRE-hypointensity. Hereditary hemochromatosis (HH), characterized by systemic iron loading, usually does not involve the CNS, and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE-hypointensity have been reported. Read More

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http://dx.doi.org/10.1186/s12883-020-01689-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7106592PMC

The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.

Eur Heart J 2020 Mar 30. Epub 2020 Mar 30.

Department of Internal Medicine II, Medical University of Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.

Aims: Imbalances of iron metabolism have been linked to the development of atherosclerosis. However, subjects with hereditary haemochromatosis have a lower prevalence of cardiovascular disease. The aim of our study was to understand the underlying mechanisms by combining data from genome-wide association study analyses in humans, CRISPR/Cas9 genome editing, and loss-of-function studies in mice. Read More

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http://dx.doi.org/10.1093/eurheartj/ehaa140DOI Listing

Iron Metabolism in Cancer Progression.

Int J Mol Sci 2020 Mar 24;21(6). Epub 2020 Mar 24.

Humanitas Clinical and Research Center, IRCCS, Department of Gastroenterology-Laboratory of Molecular Gastroenterology, Rozzano, 20089 Milan, Italy.

Iron is indispensable for cell metabolism of both normal and cancer cells. In the latter, several disruptions of its metabolism occur at the steps of tumor initiation, progression and metastasis. Noticeably, cancer cells require a large amount of iron, and exhibit a strong dependence on it for their proliferation. Read More

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http://dx.doi.org/10.3390/ijms21062257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139548PMC

Positron emission tomography-magnetic resonance liver parenchyma attenuation correction artifact in secondary hemochromatosis.

World J Nucl Med 2020 Jan-Mar;19(1):85-88. Epub 2020 Jan 24.

Department of Radiology, Stony Brook University Hospital, NY, USA.

Positron emission tomography-magnetic resonance (PET-MR) hybrid imaging is a relatively new imaging modality combining the superb MR contrast capabilities among different soft-tissue structures with the high sensitivity of PET functional imaging. With the development of any new technology, a variety of limitations will be encountered including the introduction of new types of artifacts. In this case report, we present a restaging PET-MR scan for multiple myeloma that showed severely decreased fluorodeoxyglucose activity in the liver on the PET attenuated corrected images. Read More

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http://dx.doi.org/10.4103/wjnm.WJNM_10_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067121PMC
January 2020

Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.

J Clin Exp Hepatol 2020 Mar-Apr;10(2):163-169. Epub 2019 Apr 29.

Pathology, VPS Lakeshore Hospital, Kochi, India.

Background: Primary hemochromatosis is unusual in India. The homeostatic iron regulator (HFE) gene C282Y mutation, a common cause for hemochromatosis in Europe, is considered almost nonexistent in India. We are reporting a case of hemochromatosis with the HFE gene C282Y mutation and two other adult cases with a novel hemojuvelin (HJV) mutation from Kerala. Read More

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http://dx.doi.org/10.1016/j.jceh.2019.04.051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067988PMC

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.

Front Genet 2020 21;11:77. Epub 2020 Feb 21.

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, China.

-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry. It is reported that the p.C282Y mutation is present in 1/10 people of northern European descent, resulting in one in two hundred people will be homozygous. Read More

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http://dx.doi.org/10.3389/fgene.2020.00077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7048005PMC
February 2020

[A case of hereditary stomatocytosis with Gilbert syndrome and secondary hemochromatosis].

Zhonghua Nei Ke Za Zhi 2020 Mar;59(3):226-229

Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2020.03.012DOI Listing

Failure to detect synergy between variants in transferrin and hemochromatosis and Alzheimer's disease in large cohort.

Neurobiol Aging 2020 May 12;89:142.e9-142.e12. Epub 2020 Feb 12.

Department of Biology, Brigham Young University, Provo, UT, USA. Electronic address:

Alzheimer's disease (AD) is the most common cause of dementia and, despite decades of effort, there is no effective treatment. In the last decade, many association studies have identified genetic markers that are associated with AD status. Two of these studies suggest that an epistatic interaction between variants rs1049296 in the transferrin (TF) gene and rs1800562 in the homeostatic iron regulator (HFE) gene, commonly known as hemochromatosis, is in genetic association with AD. Read More

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206870PMC

Difficult diagnosis of cardiac haemochromatosis: a case report.

Eur Heart J Case Rep 2020 Feb 13;4(1):1-6. Epub 2020 Feb 13.

Clinic of Cardiac and Vascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Santariškių 2, LT-08661 Vilnius, Lithuania.

Background: Primary iron overload cardiomyopathy is an important and potentially preventable cause of heart failure (HF), usually manifesting in the 4-5th decade of life. Patients may be asymptomatic early in the disease with hidden progression of cardiac dysfunction. The challenge of timely detection is an awareness of this systemic disorder and an adequate degree of clinical vigilance. Read More

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http://dx.doi.org/10.1093/ehjcr/ytaa012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7047056PMC
February 2020

Reclassifying Hepatic Cell Death during Liver Damage: Ferroptosis-A Novel Form of Non-Apoptotic Cell Death?

Int J Mol Sci 2020 Feb 28;21(5). Epub 2020 Feb 28.

MICTLÁN-Network (Mechanisms of Liver Injury, Cell death and translational Nutrition in liver diseases Research Network), Mexico City 14080, Mexico.

Ferroptosis has emerged as a new type of cell death in different pathological conditions, including neurological and kidney diseases and, especially, in different types of cancer. The hallmark of this regulated cell death is the presence of iron-driven lipid peroxidation; the activation of key genes related to this process such as glutathione peroxidase-4 (), acyl-CoA synthetase long-chain family member-4 (), carbonyl reductase [NADPH] 3 (), and prostaglandin peroxidase synthase-2 (); and morphological changes including shrunken and electron-dense mitochondria. Iron overload in the liver has long been recognized as both a major trigger of liver damage in different diseases, and it is also associated with liver fibrosis. Read More

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http://dx.doi.org/10.3390/ijms21051651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7084577PMC
February 2020

Hereditary hemochromatosis and risk of joint replacement surgery: a systematic review and meta-analysis.

Eur J Gastroenterol Hepatol 2020 Feb 27. Epub 2020 Feb 27.

Clinical Epidemiology Unit, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Background/objectives: Arthritis is a known manifestation of hereditary hemochromatosis. However, whether patients with hereditary hemochromatosis have an increased risk of having joint replacement surgery compared to the general population is still unknown. This meta-analysis was conducted to better characterize this risk. Read More

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http://dx.doi.org/10.1097/MEG.0000000000001704DOI Listing
February 2020
2.152 Impact Factor

Gnpat does not play an essential role in systemic iron homeostasis in murine model.

J Cell Mol Med 2020 Apr 28;24(7):4118-4126. Epub 2020 Feb 28.

Beijing Advanced Innovation Center for Food Nutrition and Human Health, China Agricultural University, Beijing, China.

The GNPAT variant rs11558492 (p.D519G) was identified as a novel genetic factor that modifies the iron-overload phenotype in homozygous carriers of the HFE p.C282Y variant. Read More

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http://dx.doi.org/10.1111/jcmm.15068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171407PMC

Comparing Care of the Primary and Secondary Hemochromatosis Patients.

Authors:
Susan Becker

J Infus Nurs 2020 Mar/Apr;43(2):65-69

Mary Washington Hospital, Fredericksburg, Virginia. Susan Becker, DNP, RN, CNS, CCRN, CCNS, has 37 years of nursing experience. She is presently a clinical nurse specialist for critical care services at Mary Washington Hospital, Fredericksburg, Virginia, and has recently worked as an assistant professor of nursing at the Malek School of Health Professionals of Marymount University, Virginia. Dr Becker completed her DNP at Duke University in 2013 after finishing her BSN and MSN/CNS at George Mason University. Her research interests include critical care and educational issues.

Hemochromatosis is an imbalance of excessive serum iron and is a life-threatening condition if left untreated. Due to different causes, primary and secondary hemochromatosis have different patient care considerations for the infusion nurse. Understanding the pathophysiology and how the body absorbs iron is imperative for providing the highest quality care. Read More

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http://dx.doi.org/10.1097/NAN.0000000000000358DOI Listing
February 2020

Histologic Lesions of Porto-Sinusoidal Vascular Disease Following Phlebotomy in Hemochromatosis.

Gastroenterology Res 2020 Feb 1;13(1):32-39. Epub 2020 Feb 1.

Anatomic Pathology, Albany Medical College, Albany, NY, USA.

Background: Phlebotomy induces regression of liver fibrosis in genetic hemochromatosis. We assessed the histologic changes in pre-phlebotomy and post-phlebotomy liver biopsies from patients with mutation as a model to study regression of fibrosis. We aimed to show that phlebotomy-induced histologic lesions overlap with porto-sinusoidal vascular disease (PSVD, also known as idiopathic non-cirrhotic portal hypertension), histologically. Read More

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http://dx.doi.org/10.14740/gr1236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011912PMC
February 2020

Pentosan polysulfate to control hepcidin expression in vitro and in vivo.

Biochem Pharmacol 2020 May 20;175:113867. Epub 2020 Feb 20.

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address:

Hepcidin peptide is crucial in the regulation of systemic iron availability controlling its uptake from the diet and its release from the body storage tissues. Hepcidin dysregulation causes different human disorders ranging from iron overload (e.g. Read More

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http://dx.doi.org/10.1016/j.bcp.2020.113867DOI Listing

Ensuring donor safety: is venesecting therapeutic donors to haemoglobin levels below Blood Service guidelines safe?

Vox Sang 2020 May 20;115(4):288-292. Epub 2020 Feb 20.

Fiona Stanley Fremantle Hospital Group, Murdoch, WA, Australia.

Therapeutic phlebotomy is the cornerstone of treatment for HFE haemochromatosis (HH). Current Australian Red Cross LifeBlood Service guidelines mandate measuring haemoglobin (Hb) levels prior to phlebotomy and if below 130 g/l in men or 120 g/l in women, donors are deferred from donating whole blood. Therapeutic donation below these levels may take place where both the treating doctor and a blood service medical officer approve. Read More

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http://dx.doi.org/10.1111/vox.12900DOI Listing

Diagnosis and management of hereditary haemochromatosis.

Vox Sang 2020 May 20;115(4):255-262. Epub 2020 Feb 20.

Division of Hematology, Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA.

Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload. Read More

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http://dx.doi.org/10.1111/vox.12896DOI Listing

Macrophage-HFE controls iron metabolism and immune responses in aged mice.

Haematologica 2020 Feb 20. Epub 2020 Feb 20.

Institute of Comparative Molecular Endocrinology, Ulm University, Ulm, Germany;

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http://dx.doi.org/10.3324/haematol.2019.235630DOI Listing
February 2020