10,958 results match your criteria Hemochromatosis

Network pharmacology-based identification of the key mechanism of quercetin acting on hemochromatosis.

Metallomics 2021 May 7. Epub 2021 May 7.

College of Animal Sciences, Zhejiang University, Key Laboratory of Animal Feed and Nutrition of Zhejiang Province, Hangzhou, 310058, China.

Hemochromatosis is an iron overload disease, which lacks nutritional intervention strategies. This study explored the protective effect of quercetin on hemochromatosis and its possible mechanism through network pharmacology. We used Online Mendelian Inheritance in Man (OMIM) to screen the disease targets of hemochromatosis, and further constructed a potential protein interaction network through STITCH. Read More

View Article and Full-Text PDF

Absorption of non-heme iron during gastric acid suppression in patients with hereditary hemochromatosis and healthy controls.

Am J Physiol Gastrointest Liver Physiol 2021 May 5. Epub 2021 May 5.

Department of Internal Medicine, Gastroenterology and Clinical Geriatrics, Zuyderland Medisch Centrum, Netherlandsgrid.416905.f.

Phlebotomies are performed in hereditary hemochromatosis (HH) to maintain normal iron concentrations. Proton pump inhibitors (PPIs) can reduce the number of phlebotomies in HH patients. However, in patients without HH, the iron concentrations do not appear to be compromised when using PPIs. Read More

View Article and Full-Text PDF

Musculoskeletal complications associated with pathological iron toxicity and its molecular mechanisms.

Biochem Soc Trans 2021 Apr 30. Epub 2021 Apr 30.

Centre of Marine Sciences (CCMAR), Universidade do Algarve, Faro, 8005-139, Portugal.

Iron is fundamental for several biological functions, but when in excess can lead to the development of toxic events. Some tissues and cells are more susceptible than others, but systemic iron levels can be controlled by treating patients with iron-chelating molecules and phlebotomy. An early diagnostic can be decisive to limit the progression of musculoskeletal complications like osteoarthritis and osteoporosis because of iron toxicity. Read More

View Article and Full-Text PDF

Iron at the Interface of Hepatocellular Carcinoma.

Int J Mol Sci 2021 Apr 15;22(8). Epub 2021 Apr 15.

Institute of Comparative Molecular Endocrinology, Ulm University, 89081 Ulm, Germany.

Cancer incidence and mortality are rapidly growing, with liver cancer being the sixth most diagnosed cancer worldwide and the third leading cause of cancer death in 2020. A number of risk factors have been identified that trigger the progression to hepatocellular carcinoma. In this review, we focus on iron as a potential risk factor for liver carcinogenesis. Read More

View Article and Full-Text PDF

In vitro identification and characterisation of iron chelating catechol-containing natural products and derivatives.

Biometals 2021 Apr 28. Epub 2021 Apr 28.

Faculty of Health, School of Biomedical Sciences, Queensland University of Technology (QUT), 60 Musk Avenue, Kelvin Grove, Brisbane, QLD, 4059, Australia.

Iron is an essential component for multiple biological processes. Its regulation within the body is thus tightly controlled. Dysregulation of iron levels within the body can result in several disorders associated with either excess iron accumulation, including haemochromatosis and thalassaemia, or iron deficiency. Read More

View Article and Full-Text PDF

Serum selenium and non-alcoholic fatty liver disease (NAFLD) in U.S. adults: National Health and Nutrition Examination Survey (NHANES) 2011-2016.

Environ Res 2021 Apr 16;197:111190. Epub 2021 Apr 16.

Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, MI, USA; Department of Environmental Health Sciences, School of Public Health, University of Michigan, Ann Arbor, MI, USA.

Background: Selenium is an essential trace element that shows beneficial or adverse health effects depending on the dose. Laboratory studies suggest that high selenium may contribute to the development of non-alcoholic fatty liver disease (NAFLD). However, human evidence is limited. Read More

View Article and Full-Text PDF

Juvenile haemochromatosis.

Lancet Child Adolesc Health 2021 Apr 13. Epub 2021 Apr 13.

Liver Unit, Birmingham Women's and Children's NHS Trust and University of Birmingham, Birmingham, UK.

Juvenile haemochromatosis is a severe inherited iron-loading disorder that can present in children and adolescents. Typical manifestations include heart failure, endocrine failure (including diabetes and hypogonadism), cirrhosis, and arthropathy. Compared with HFE haemochromatosis, juvenile haemochromatosis affects female and male individuals similarly, presents at a younger age, and causes multiple organ dysfunction; the principle of iron loading into tissues from the gut is shared by both forms, but the process is far more rapid in juvenile haemochromatosis. Read More

View Article and Full-Text PDF

[CME Laboratory 63/Answers: Diagnostics of Iron Metabolism].

Praxis (Bern 1994) 2021 Apr;110(5):249-250

Institut für Klinische Chemie, Universitätsspital Zürich.

CME Laboratory 63/Answers: Diagnostics of Iron Metabolism Abstract: Iron deficiency is common and affects the course of many chronic diseases. The diagnosis of absolute and manifest iron deficiency anemia can be easily made by measuring hemoglobin and serum ferritin levels. In inflammatory diseases, the diagnosis can be facilitated by additional laboratory parameters such as soluble transferrin receptor. Read More

View Article and Full-Text PDF

Living donor liver transplantation for small infants aged less than 6 months: The experience of a single institute.

J Pediatr Surg 2021 Mar 24. Epub 2021 Mar 24.

Division of Transplantation Surgery, Department of Surgery, Taipei Veterans General Hospital, Taipei, Taiwan; School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Purpose: Liver transplantation (LT) for small infants < 6 months old is rare but becoming common as perioperative care improves. In Taiwan, living donor LT (LDLT) has expanded indications but is rarely performed for this age group because of unfavorable outcomes in the literature. We evaluated LDLT outcomes of patients <6 months old. Read More

View Article and Full-Text PDF

Iron depletion attenuates steatosis in a mouse model of non-alcoholic fatty liver disease: Role of iron-dependent pathways.

Biochim Biophys Acta Mol Basis Dis 2021 Apr 9;1867(7):166142. Epub 2021 Apr 9.

Faculty of Medicine, The University of Queensland, Brisbane, Australia; Gallipoli Medical Research Institute, Greenslopes Private Hospital, Brisbane, Australia; The QIMR Berghofer Medical Research Institute, Brisbane, Australia; Hepatogenomics Research Group, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, Australia. Electronic address:

Background & Aims: Iron has been proposed as influencing the progression of liver disease in subjects with non-alcoholic fatty liver disease (NAFLD). We have previously shown that, in the Hfe mouse model of hemochromatosis, feeding of a high-calorie diet (HCD) leads to increased liver injury. In this study we investigated whether the feeding of an iron deficient/HCD to Hfe mice influenced the development of NAFLD. Read More

View Article and Full-Text PDF

Role of iron and iron-related proteins in mesenchymal stem cells: Cellular and clinical aspects.

Kosha J Mehta

J Cell Physiol 2021 Apr 5. Epub 2021 Apr 5.

Faculty of Life Sciences and Medicine, Centre for Education, King's College London, London, UK.

Mesenchymal stem cells (MSCs) are located in various tissues where these cells show niche-dependent multilineage differentiation and secrete immunomodulatory molecules to support numerous physiological processes. Due to their regenerative and reparative properties, MSCs are extremely valuable for cell-based therapy in tackling several pathological conditions including COVID-19. Iron is essential for MSC processes but iron-loading, which is common in several chronic conditions, hinders normal MSC functionality. Read More

View Article and Full-Text PDF

Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mice.

Int J Mol Sci 2021 Mar 6;22(5). Epub 2021 Mar 6.

Institute of Biotechnology, Biotechnology and Biomedicine Center of the Academy of Sciences and Charles University in Vestec, Czech Academy of Sciences, 252 50 Vestec, Czech Republic.

Matriptase-2, a serine protease expressed in hepatocytes, is a negative regulator of hepcidin expression. The purpose of the study was to investigate the interaction of matriptase-2 with hemojuvelin protein in vivo. Mice lacking the matriptase-2 proteolytic activity ( mice) display decreased content of hemojuvelin protein. Read More

View Article and Full-Text PDF

Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports.

Medicine (Baltimore) 2021 Apr;100(13):e25258

Department of Endocrinology, Second affiliated Hospital of Zhejiang University, HangZhou, Zhejiang Province, China.

Rationale: Hereditary hemochromatosis (HH) is a hereditary disorder of iron metabolism. It is classified into 4 main types depending on the underlying genetic mutation: human hemochromatosis protein (HFE) (type 1), hemojuvelin (HJV) (type 2A), HAMP (type 2B), transferrin receptor-2 (TFER2) (type 3), and ferroportin (type 4). Type 4 HH is divided into 2 subtypes according to different mutations: type 4A (classical ferroportin disease) and type 4B (non-classical ferroportin disease). Read More

View Article and Full-Text PDF

Alternative Etiologies of Liver Disease in Children With Suspected NAFLD.

Pediatrics 2021 Mar 30. Epub 2021 Mar 30.

Division of Gastroenterology, Hepatology and Nutrition, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio;

Objectives: To determine the prevalence of alternative causes of liver disease in a cohort of youth with overweight and obesity undergoing evaluation for suspected nonalcoholic fatty liver disease (NAFLD).

Methods: Multicenter, retrospective cohort study of patients aged ≤18 years with overweight and obesity and evidence of elevated serum aminotransferases and/or hepatic steatosis on imaging, referred for suspected NAFLD to Cincinnati Children's Hospital Medical Center (2009-2017) or Yale New Haven Children's Hospital (2012-2017). Testing was performed to exclude the following: autoimmune hepatitis (AIH), Wilson disease, viral hepatitis (B and C), thyroid dysfunction, celiac disease, α-1 antitrypsin deficiency, and hemochromatosis. Read More

View Article and Full-Text PDF

Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD.

J Hepatol 2021 Mar 24. Epub 2021 Mar 24.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy; Translational Medicine, Department of Transfusion Medicine and Hematology, Fondazione IRCCS Ca' Granda Ospedale Policlinico di Milano, Milan, Italy. Electronic address:

Background & Aims: Nonalcoholic fatty liver disease (NAFLD) is a multifactorial disorder resulting from genetic and environmental factors. Hyperferritinemia has been associated with increased hepatic iron stores and worse outcomes in NAFLD patients. The aim of this study was to evaluate the prevalence of variants of iron-related genes and their association with hyperferritinemia, hepatic iron stores and liver disease severity in NAFLD patients. Read More

View Article and Full-Text PDF

National trends and outcomes of genetically inherited non-alcoholic chronic liver disease in the USA: estimates from the National Inpatient Sample (NIS) database.

Gastroenterol Rep (Oxf) 2021 Jan 15;9(1):38-48. Epub 2021 Jan 15.

Department of Pediatrics, Adolescent and Internal Medicine, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI, USA.

Background: Medical literature on the prevalence of genetic liver disease is lacking. In this study, we investigated the in-hospital healthcare and economic burden from genetic causes of non-alcoholic chronic liver disease (NACLD) and non-alcoholic liver cirrhosis (NALC) in the USA.

Methods: Data were abstracted from the National Inpatient Sample database between 2002 and 2014 using ICD9 codes for patients discharged with NACLD and NALC secondary to genetic diseases including alpha-1 antitrypsin deficiency (A1ATd), cystic fibrosis (CF), Wilson disease (WD), hereditary hemochromatosis (HHC), glycogen storage disease, and disorders of aromatic amino-acid metabolism (DAAAM). Read More

View Article and Full-Text PDF
January 2021

Mental Well-Being in Patients with Transfusion-Dependent Anemias and Hemochromatosis during the SARS-CoV-2 Pandemic.

Mediterr J Hematol Infect Dis 2021 1;13(1):e2021024. Epub 2021 Mar 1.

Università degli Studi di Milano-Bicocca, Dipartimento di Medicina e Chirurgia, Monza, Italy.

View Article and Full-Text PDF


Rev Prat 2020 Nov;70(9):987

98e antenne médicale, caserne Général-Dupuy, Saint-Astier, France.

View Article and Full-Text PDF
November 2020

Clinical characteristics of endocrinopathies in Chinese patients with hereditary haemochromatosis.

Diabetes Metab Res Rev 2021 Mar 18. Epub 2021 Mar 18.

Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

Aims: Hereditary haemochromatosis (HH) is a genetic disorder characterised by systemic iron overload and can lead to end-organ failure. However, very few data on this disorder, especially those on endocrine gland involvement in Chinese populations, are currently available. This study aimed to analyse the clinical features of endocrinopathies in patients with HH to generate concern among endocrinologists and improve the management of this disorder. Read More

View Article and Full-Text PDF

[CME-Laboratory 63: Diagnostics of Iron Metabolism].

Praxis (Bern 1994) 2021 ;110(4):181-186

Institut für Klinische Chemie, Universitätsspital Zürich.

CME-Laboratory 63: Diagnostics of Iron Metabolism Iron deficiency is common and affects the course of many chronic diseases. The diagnosis of absolute and manifest iron deficiency anemia can be easily made by measuring hemoglobin and serum ferritin levels. In inflammatory diseases, the diagnosis can be facilitated by additional laboratory parameters such as soluble transferrin receptor. Read More

View Article and Full-Text PDF

The effect of food and nutrients on iron overload: what do we know so far?

Eur J Clin Nutr 2021 Mar 12. Epub 2021 Mar 12.

Nutrition Institute, Rio de Janeiro State University, Rio de Janeiro, Brazil.

There has been no established food and nutrition guidance for diseases characterized by the presence of iron overload (IOL) yet. Hepcidin is a hormone that diminishes iron bioavailability. Its levels increase in response to increased iron stores. Read More

View Article and Full-Text PDF

Magnetic resonance imaging of neonatal hemochromatosis.

Pediatr Radiol 2021 Mar 12. Epub 2021 Mar 12.

Department of Pediatrics, University of Toronto, Toronto, ON, Canada.

Neonatal hemochromatosis is a rare condition that causes neonatal liver failure, frequently resulting in fetal loss or neonatal death. It is thought that most cases of neonatal hemochromatosis are caused by gestational alloimmune liver disease (GALD), with neonatal hemochromatosis being a phenotype of GALD rather than a disease process. Extrahepatic siderosis in the pancreas, myocardium, thyroid and minor salivary gland is a characteristic feature of neonatal hemochromatosis. Read More

View Article and Full-Text PDF

Editorial: the polygenic risk of cirrhosis development.

Aliment Pharmacol Ther 2021 04;53(7):849-850

Department of Medicine, University Medical Center Mainz Department of Internal Medicine 1, Mainz, Germany.

View Article and Full-Text PDF

Coenzyme Q10 deficiency in patients with hereditary hemochromatosis.

Clin Res Hepatol Gastroenterol 2021 Mar 3;45(6):101624. Epub 2021 Mar 3.

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Tecnología Farmacéutica, Buenos Aires, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas, CONICET, Argentina. Electronic address:

Aim: Hereditary hemochromatosis (HH) is a group of inherited disorders that causes a slow and progressive iron deposition in diverse organs, particularly in the liver. Iron overload induces oxidative stress and tissue damage. Coenzyme Q10 (CoQ10) is a cofactor in the electron-transport chain of the mitochondria, but it is also a potent endogenous antioxidant. Read More

View Article and Full-Text PDF

A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis.

Clin Res Hepatol Gastroenterol 2021 Mar 3;45(2):101658. Epub 2021 Mar 3.

Division of Gastroenterology and Hepatology, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL 32224, United States. Electronic address:

Introduction And Objectives: The goal of this study was to assess lifestyle habits and physician counseling of patients with hereditary hemochromatosis (HH), and determine the prevalence of direct-to-consumer (DTC) genetic testing.

Materials And Methods: A 52-question survey was created to collect information on lifestyle habits and physician counseling among patients with HH, and the use of DTC genetic testing of patients referred to a clinic for evaluation of HH. A multivariate logistic regression model was applied to identify predictors of DTC genetic testing use. Read More

View Article and Full-Text PDF

Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report.

BMC Gastroenterol 2021 Mar 5;21(1):111. Epub 2021 Mar 5.

Department of Hepatology and Pancreatology, Kawasaki Medical School, 577 Matsushima, Kurashiki, 701-0192, Japan.

Background: Hereditary hemochromatosis is a heterogenous group of inherited iron-overload conditions that is characterized by increased intestinal absorption and deposition in vital organs. Hepcidin is a soluble regulator that acts to attenuate both intestinal iron absorption and iron release from reticuloendothelial macrophages through internalization of ferroportin-1, an iron exporter. Ferroportin disease is hereditary hemochromatosis which is affected by SLC40A1, a gene coding ferroportin-1, and phenotypically classified into two forms (classical and nonclassical). Read More

View Article and Full-Text PDF

Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C.

J Pediatr Hematol Oncol 2021 Mar 3. Epub 2021 Mar 3.

Department of Pediatrics, Móstoles University Hospital, Móstoles Department of Pediatric Hematology and Oncology, Montepríncipe HM Hospital, Boadilla del Monte Instituto de Investigación Sanitaria (Health Research Institute) of the 12 de Octubre University Hospital (imas12), Section 3: Rare Diseases, Group: Porphyrias, Hemochromatosis and Anemias Unit of Hereditary Mitochondrial & Metabolic Diseases, Department of Pediatrics, 12 de Octubre University Hospital, National Reference Center for Hereditary Metabolic Diseases (C.S.U.R.) and European Reference Network for Hereditary Metabolic Disorders (MetabERN), Madrid, Spain.

Atypical microcytic anemias are rare diseases of iron/heme metabolism that can be diagnostically challenging. We report the case of a 2-year-old twin boy with neurodevelopmental delay and persistent microcytosis in whom atypical microcytic anemias was initially suspected. He had low blood iron and transferrin saturation with normal/high ferritin despite iron therapy. Read More

View Article and Full-Text PDF

[A monocentric study on the management of patients with myelodysplastic syndromes in Morocco].

Pan Afr Med J 2020 2;37:300. Epub 2020 Dec 2.

Service d´Hématologie Clinique, Hôpital Militaire d´Instruction Mohammed V, Rabat, Maroc.

We conducted a retrospective descriptive analytical study in the Department of Clinical Haematology at the Mohammed V Military Training Hospital in Rabat over a period of 10 years. This study included 76 patients diagnosed with myelodysplastic syndrome (MDS) between 2008 and 2018. The average number of cases per year was 7. Read More

View Article and Full-Text PDF