10,389 results match your criteria Hemochromatosis


[Odd Aspects of Hemochromatosis, a Widespread Disease].

Praxis (Bern 1994) 2018 ;107(25):1413-1418

1 Medbase St. Gallen Am Vadianplatz, St. Gallen.

Odd Aspects of Hemochromatosis, a Widespread Disease Abstract. This case series is written to investigate the odd aspects of hemochromatosis, a frequently encountered disease in our latitudes (and even a widespread disease in Ireland). One patient presented with bilateral digital artery occlusion and another one with bilateral rib fractures. Read More

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January 2018

Genetic factors influencing hemoglobin levels in 15,567 blood donors: results from the Danish Blood Donor Study.

Transfusion 2018 Dec 7. Epub 2018 Dec 7.

Department of Clinical Immunology, Capital Region, Copenhagen University Hospital, Copenhagen, Denmark.

Background: Blood donors have an increased risk of low hemoglobin (Hb) levels due to iron deficiency. Therefore, knowledge of genetic variants associated with low Hb could facilitate individualized donation intervals. We have previously reported three specific single-nucleotide polymorphisms that were associated with ferritin levels in blood donors. Read More

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December 2018

Ironing out unmet need in genetic haemochromatosis.

Lancet Gastroenterol Hepatol 2019 Jan 6;4(1). Epub 2018 Dec 6.

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January 2019

Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations.

Mol Genet Metab 2018 Nov 28. Epub 2018 Nov 28.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Porphyria Cutanea Tarda (PCT) is a cutaneous porphyria that results from the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heterozygous UROD mutation causes half-normal levels of UROD activity systemically, which is a susceptibility factor but is not sufficient alone to cause type 2 PCT. In both Types 1 and 2 PCT, the cutaneous manifestations are precipitated by additional factors that lead to generation of an inhibitor that more profoundly reduces hepatic UROD activity. Read More

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November 2018
1 Read

Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.

BMC Med Imaging 2018 Dec 4;18(1):51. Epub 2018 Dec 4.

Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry (IFMPEGKC), RWTH University Hospital Aachen, Pauwelsstr 30, D-52074, Aachen, Germany.

Background: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting about 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the p.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized by excess iron stores in the body. Read More

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December 2018
1 Read

Redox dyshomeostasis in the experimental chronic hepatic overloads with iron or copper.

J Inorg Biochem 2018 Nov 23;191:119-125. Epub 2018 Nov 23.

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Química Analítica y Fisicoquímica, Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Argentina. Electronic address:

Male rats of 80-90 g were overloaded with either Fe(II) or Cu(II) for 42 days by high concentrations of FeCl or CuSO in the drinking water. The animals were fed with a commercial rodent diet of 2780 kcal/100 g. Both metal treatments led to a liver redox imbalance and dyshomeostasis with oxidative stress and damage and the concomitant enhancement of oxidative processes as indicated by in vivo surface liver chemiluminescence, the sensitive and organ non-invasive assay for oxidative free radical reactions, and by ex vivo determined processes of phospholipid peroxidation and protein oxidation. Read More

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November 2018
2 Reads

A novel SLC40A1 p.Y333H mutation with gain-of-function of ferroportin: a recurrent cause of hemochromatosis in China.

Liver Int 2018 Nov 30. Epub 2018 Nov 30.

Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Beijing, 100050, China.

Background & Aims: Hemochromatosis type 4, also known as ferroportin disease, is an autosomal dominant genetic disorder caused by pathogenic mutations in the SLC40A1 gene, which encodes ferroportin 1 (FPN1). We have identified a novel SCL40A1 p.Y333H mutation in our previous study. Read More

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November 2018
1 Read
4.850 Impact Factor

Safety and efficacy of sucrosomial iron in inflammatory bowel disease patients with iron deficiency anemia.

Intern Emerg Med 2018 Nov 29. Epub 2018 Nov 29.

Division of Internal Medicine 2 and Center for Hemochromatosis, University of Modena and Reggio Emilia, Via DEL Pozzo 71, 41124, Modena, Italy.

Iron deficiency anemia (IDA) is one of the most common complications of inflammatory bowel disease (IBD). We planned a prospective study to address tolerability and efficacy of sucrosomial iron, a new oral formulation of ferric pyrophosphate, in IBD patients. Thirty patients with a confirmed diagnosis of Crohn's Disease (CD) or ulcerative colitis (UC) and mild IDA were enrolled. Read More

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November 2018
2 Reads

Lafora Disease Masquerading as Hepatic Dysfunction.

Cureus 2018 Aug 24;10(8):e3197. Epub 2018 Aug 24.

Internal Medicine, University of South Dakota Sanford School of Medicine, Sioux Falls, USA.

Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with elevated liver enzymes. Read More

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August 2018
1 Read

Iron as a Therapeutic Target in -Related Hemochromatosis: Usual and Novel Aspects.

Pharmaceuticals (Basel) 2018 Nov 26;11(4). Epub 2018 Nov 26.

INSERM, Univ Rennes, INRA, CHU Rennes, Institut NUMECAN (Nutrition Metabolisms and Cancer), F-35033 Rennes, France.

Genetic hemochromatosis is an iron overload disease that is mainly related to the mutation in the gene. This gene controls the expression of hepcidin, a peptide secreted in plasma by the liver and regulates systemic iron distribution. Homozygous mutation induces hepcidin deficiency, leading to increased circulating transferrin saturation, and ultimately, iron accumulation in organs such as the liver, pancreas, heart, and bone. Read More

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November 2018
4 Reads

Distinct Iron Deposition Profiles of Liver Zones in Various Models with Iron Homeostasis Disorders.

Adv Sci (Weinh) 2018 Nov 12;5(11):1800866. Epub 2018 Oct 12.

State Key Laboratory of Environmental Chemistry and Ecotoxicology Research Center for Eco-Environmental Sciences Chinese Academy of Sciences Beijing 100085 China.

Determination of iron accumulation is crucial in diagnosing the occurrence and progression of many liver- and iron-related diseases. Thus far, little is known about the profiles of iron deposition in different liver zones, particularly under conditions with disordered iron homeostasis. Here, uneven iron distribution in livers of patients with hereditary hemochromatosis (HH) is uncovered, showing the region with the highest iron concentration near the entrance site of the portal vein and hepatic artery in contrast to the sites with the lowest iron concentration close to the distal edge. Read More

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November 2018
3 Reads

Utility of HbA assessment in people with diabetes awaiting liver transplantation.

Diabet Med 2018 Nov 26. Epub 2018 Nov 26.

Medical School, University of Birmingham, Birmingham.

Aims: To investigate the relationship between HbA and glucose in people with co-existing liver disease and diabetes awaiting transplant, and in those with diabetes but no liver disease.

Methods: HbA and random plasma glucose data were collected for 125 people with diabetes without liver disease and for 29 people awaiting liver transplant with diabetes and cirrhosis. The median (interquartile range) Model for End Stage Liver Disease score for the study cohort was calculated as 12 (9-17; normal <6). Read More

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November 2018
6 Reads

Hepcidin Therapeutics.

Pharmaceuticals (Basel) 2018 Nov 21;11(4). Epub 2018 Nov 21.

Lady Davis Institute for Medical Research, Jewish General Hospital, Department of Medicine, McGill University, Montreal, QC H3T 1E2, Canada.

Hepcidin is a key hormonal regulator of systemic iron homeostasis and its expression is induced by iron or inflammatory stimuli. Genetic defects in iron signaling to hepcidin lead to "hepcidinopathies" ranging from hereditary hemochromatosis to iron-refractory iron deficiency anemia, which are disorders caused by hepcidin deficiency or excess, respectively. Moreover, dysregulation of hepcidin is a pathogenic cofactor in iron-loading anemias with ineffective erythropoiesis and in anemia of inflammation. Read More

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November 2018
2 Reads

[Hemochromatosis related Arthropathy].

Authors:
Peter Nowak

Ther Umsch 2018 Nov;75(4):235-239

1 Internistischer Dienst, Psychiatrische Universitätsklinik Zürich.

Hemochromatosis related Arthropathy Abstract. Hemochromatosis is an autosomal recessive disease that is caused by an HFE gene mutation (High Iron Fe) in most patients. Pathophysiologically, the effect of the mutation is an increased iron absorption in the gut. Read More

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November 2018
6 Reads

Prenatal imaging features suggestive of liver gestational allo immune disease.

J Gynecol Obstet Hum Reprod 2018 Nov 19. Epub 2018 Nov 19.

Fetal Medicine unit, Université Claude Bernard, Lyon 1, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69500, Bron, Lyon, France. Electronic address:

We report prenatal imaging features of four cases of neonatal hemochromatosis due to an alloimmune disease. All cases exhibited intra uterine growth restriction (IUGR) without arguments for a vascular etiology, associated with oligohydramnios. Placental hydrops was present in 75% of cases. Read More

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November 2018
4 Reads

Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins.

AJP Rep 2018 Oct 20;8(4):e332-e334. Epub 2018 Nov 20.

Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong.

Acute liver failure (ALF) in neonates is rare. Although the incidence is reported to be rare, neonatal hemochromatosis (NH) has to be considered as one of the causes of neonatal ALF. We present a pair of dichorionic twin who had a diverse clinical presentation of NH. Read More

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October 2018
8 Reads

Hepatocellular Carcinoma Arising in a Non-cirrhotic Liver with Secondary Hemochromatosis.

Intern Med 2018 Nov 19. Epub 2018 Nov 19.

Department of Gastroenterology and Medicine, Fukuoka University Faculty of Medicine, Japan.

A 70-year-old man was admitted for treatment of a single liver nodule that was detected by contrast-enhanced computed tomography. Twenty years earlier, the patient had been diagnosed with myelodysplastic syndrome-refractory anemia and secondary hemochromatosis but had not received erythrocyte transfusions. The current histological, computed tomography, and magnetic resonance imaging findings revealed hepatocellular carcinoma (HCC) and non-cirrhotic liver hemochromatosis. Read More

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November 2018
3 Reads

Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis.

PLoS One 2018 14;13(11):e0207441. Epub 2018 Nov 14.

Centre of Marine Sciences (CCMAR), University of Algarve, Faro, Portugal.

Osteoporosis is associated with chronic iron overload secondary to hereditary hemochromatosis (HH), but the causative mechanisms are incompletely understood. The main objective of this study was to investigate the role of dietary iron on osteoporosis, using as biological model the Hfe-KO mice, which have a systemic iron overload. We showed that these mice show an increased susceptibility for developing a bone loss phenotype compared to WT mice, which can be exacerbated by an iron rich diet. Read More

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November 2018
6 Reads

HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.

PLoS One 2018 14;13(11):e0207415. Epub 2018 Nov 14.

Department of Internal Medicine, Hospital Oberndorf, Teaching Hospital of the Paracelsus Private Medical University of Salzburg, Oberndorf, Austria.

Objective: Despite the high frequency of HFE gene mutations in Western Europe, widespread screening for HFE hemochromatosis is not recommended due to its variable phenotype. Joint pain and a premature osteoarthritis-like disease including the hip joints are the most frequent manifestation in patients with HFE hemochromatosis and iron overload. Therefore, screening of patients with severe osteoarthritis of the hip could identify patients with HFE hemochromatosis. Read More

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November 2018
4 Reads

Inherited Disorders of Iron Overload.

Front Nutr 2018 29;5:103. Epub 2018 Oct 29.

Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.

Dietary iron absorption and systemic iron traffic are tightly controlled by hepcidin, a liver-derived peptide hormone. Hepcidin inhibits iron entry into plasma by binding to and inactivating the iron exporter ferroportin in target cells, such as duodenal enterocytes and tissue macrophages. Hepcidin is induced in response to increased body iron stores to inhibit further iron absorption and prevent iron overload. Read More

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October 2018
8 Reads

Diagnostic histochemistry in hepatic pathology.

Authors:
Julia C Iezzoni

Semin Diagn Pathol 2018 Nov 16;35(6):381-389. Epub 2018 Oct 16.

Division of Surgical Pathology and Cytopathology, Department of Pathology, University of Virginia Health System, P.O. Box 800214, Charlottesville, VA 22908, United States. Electronic address:

Histochemistry has an important, continuing role in the current assessment of hepatic biopsies and resection specimens. The evaluation of connective tissue elements in the liver can be accomplished with such methods as the Masson trichrome, Snook reticulin, Vierhoff van Gieson, orcein, and Victoria blue stains. The results contribute to the diagnosis of acute and chronic hepatitis, submassive necrosis, venous outflow obstruction, steatohepatitis, and cirrhosis. Read More

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November 2018
6 Reads

Liver iron sensing and body iron homeostasis.

Blood 2018 Nov 6. Epub 2018 Nov 6.

Division of Nephrology, Program in Membrane Biology, Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States

The liver orchestrates systemic iron balance by producing and secreting hepcidin. Known as the iron hormone, hepcidin induces degradation of the iron exporter ferroportin to control iron entry into the bloodstream from dietary sources, iron recycling macrophages, and body stores. Under physiologic conditions, hepcidin production is reduced by iron deficiency and erythropoietic drive to increase the iron supply when needed to support red blood cell production and other essential functions. Read More

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November 2018
5 Reads

Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis?

Blood Cells Mol Dis 2019 Feb 22;74:30-33. Epub 2018 Oct 22.

Univ Rennes, CHU Rennes, INSERM, French Reference Center for Hemochromatosis and Iron Metabolism Disease, F-35000 Rennes, France; Univ Rennes, CHU Rennes, INSERM, Liver Disease Department, F-35000 Rennes, France.

Juvenile hemochromatosis is a rare autosomal recessive disease due to variants in the Hemojuvelin (HJV) gene. Although biological features mimic HFE hemochromatosis, clinical presentation is worst with massive iron overload diagnosed during childhood. Our study describes clinical features and results of genetic testing for a group of patients initially referred for a hepcidino-deficiency syndrome and for whom HJV hemochromatosis was finally diagnosed. Read More

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February 2019
5 Reads

Icariin protects against iron overload-induced bone loss via suppressing oxidative stress.

J Cell Physiol 2018 Nov 1. Epub 2018 Nov 1.

Department of Orthopedics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Iron overload is common in patients with diseases such as hemoglobinopathies, hereditary hemochromatosis or elderly men and postmenopausal women. This disorder is frequently associated with bone loss and recently has been considered as an independent risk factor for osteoporosis. By excess reactive oxygen species (ROS) production through Fenton reaction, iron could induce osteoblast apoptosis, inhibit osteoblast osteogenic differentiation. Read More

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November 2018
5 Reads

Dimensions of hepatocellular carcinoma phenotypic diversity.

World J Gastroenterol 2018 Oct;24(40):4536-4547

Institut NuMeCan, Université de Rennes 1, Institut national de la recherche agronomique (INRA), Institut national de la santé et de la recherche médicale (INSERM), Rennes F-35000, France.

Hepatocellular carcinoma (HCC) is the 3 leading cause of cancer-related death worldwide. More than 80% of HCCs arise within chronic liver disease resulting from viral hepatitis, alcohol, hemochromatosis, obesity and metabolic syndrome or genotoxins. Projections based on Western lifestyle and its metabolic consequences anticipate a further increase in incidence, despite recent breakthroughs in the management of viral hepatitis. Read More

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October 2018
2 Reads

Parkinson's Disease and Metal Storage Disorders: A Systematic Review.

Brain Sci 2018 Oct 31;8(11). Epub 2018 Oct 31.

Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK.

Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson's disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Read More

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October 2018
6 Reads

Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis.

J Clin Ultrasound 2018 Oct 30. Epub 2018 Oct 30.

Department of Embryo-Fetopathology, Maternity and Neonatology Center, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Prenatal diagnosis of neonatal hemochromatosis (NH) is usually raised in front of fetal hepatomegaly and heterogeneous liver architecture. We describe a novel sonographic feature that may be associated with NH. Ultrasound demonstrated reticulonodular liver and distended gallbladder with multiple gallstones in a hydropic fetus. Read More

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October 2018
1 Read

Significance of Heparin-Binding Protein and D-dimers in the Early Diagnosis of Spontaneous Bacterial Peritonitis.

Mediators Inflamm 2018 30;2018:1969108. Epub 2018 Sep 30.

Department of Infectious and Tropical Diseases and Hepatology, Medical University of Warsaw, Poland.

Objectives: Ascites and spontaneous bacterial peritonitis (SBP) are among the most important complications of decompensated liver cirrhosis. In clinical practice, new inflammation biomarkers are needed for the early diagnosis of SBP, as well-known biomarkers, such as C-reactive protein (CRP), procalcitonin (PCT), or peripheral blood white blood cell (WBC) count, lack the required specificity and sensitivity. The aim of the study was to evaluate the significance of heparin-binding protein (HBP) in comparison to CRP, PCT, WBC, and D-dimers in the diagnosis of SBP. Read More

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September 2018
5 Reads

Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

Neth J Med 2018 Oct;76(8):365-373

Radboud University Medical Centre for Iron Disorders, Nijmegen, the Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, the Netherlands.

Background: Type 2A hereditary haemochromatosis (type 2A HH) is a rare iron-loading disorder caused by mutations in the HFE2 gene, which encodes the HJV protein. We present characteristics, treatment and follow-up of subjects diagnosed with type 2A HH in the Netherlands to increase awareness of the disease and its treatment, and to define knowledge gaps.

Methods: We collected clinical, biochemical and genetic data from seven patients (two female; five probands) from six families genetically diagnosed with type 2A HH at the Expertise Center for Iron Disorders, Radboud University Medical Centre between 2006 and 2016. Read More

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October 2018
8 Reads

The Functional Versatility of Transferrin Receptor 2 and Its Therapeutic Value.

Pharmaceuticals (Basel) 2018 Oct 23;11(4). Epub 2018 Oct 23.

Department of Clinical and Biological Sciences, University of Torino, 10043 Orbassano, Torino, Italy.

Iron homeostasis is a tightly regulated process in all living organisms because this metal is essential for cellular metabolism, but could be extremely toxic when present in excess. In mammals, there is a complex pathway devoted to iron regulation, whose key protein is hepcidin (Hepc), which is a powerful iron absorption inhibitor mainly produced by the liver. Transferrin receptor 2 (Tfr2) is one of the hepcidin regulators, and mutations in gene are responsible for type 3 hereditary hemochromatosis (HFE3), a genetically heterogeneous disease characterized by systemic iron overload. Read More

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October 2018
2 Reads

Retrospective Analysis of Endocrine Dysfunctions in a Population of Adult Polytransfused Patients: Correlation of GH-IGF1 Axis Alteration with Cardiac Performance.

Biomed Res Int 2018 26;2018:6047801. Epub 2018 Sep 26.

Endocrinology and Metabolic Diseases Unit, Department of Surgical and Medical Sciences, University of Foggia, Via Luigi Pinto 1, Foggia, Italy.

Endocrine complications of haemochromatosis and heart failure mostly affect morbidity and mortality in polytransfused patients. This study analyzes endocrine dysfunctions and the impact of GH-IGF-1 axis alteration on cardiac performance in a population of 31 patients. A retrospective study on 31 Caucasian polytransfused outpatients, 27 adults and 4 pediatric, residing in Apulia, Italy, followed from 2005 to 2016, was conducted. Read More

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September 2018
1 Read

Reduced Incidence and Better Liver Disease Outcomes among Chronic HCV Infected Patients Who Consume Cannabis.

Can J Gastroenterol Hepatol 2018 23;2018:9430953. Epub 2018 Sep 23.

Department of Medicine, University of Massachusetts Medical School, Worcester MA, USA.

Background And Aim: The effect of cannabis use on chronic liver disease (CLD) from Hepatitis C Virus (HCV) infection, the most common cause of CLD, has been controversial. Here, we investigated the impact of cannabis use on the prevalence of CLD among HCV infected individuals.

Methods: We analyzed hospital discharge records of adults (age ≥ 18 years) with a positive HCV diagnosis. Read More

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September 2018
6 Reads

Increased transferrin saturation is associated with subgingival microbiota dysbiosis and severe periodontitis in genetic haemochromatosis.

Sci Rep 2018 Oct 19;8(1):15532. Epub 2018 Oct 19.

Univ Rennes, INSERM, INRA, CHU Rennes, Institut NuMeCan (Nutrition, Metabolism and Cancer), Rennes, F-35000, France.

Genetic haemochromatosis (GH) is responsible for iron overload. Increased transferrin saturation (TSAT) has been associated with severe periodontitis, which is a chronic inflammatory disease affecting tissues surrounding the teeth and is related to dysbiosis of the subgingival microbiota. Because iron is essential for bacterial pathogens, alterations in iron homeostasis can drive dysbiosis. Read More

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October 2018
1 Read

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests.

Blood Cells Mol Dis 2019 Feb 10;74:18-24. Epub 2018 Oct 10.

Department of Gastroenterology & Hepatology, Fiona Stanley Fremantle Hospital Group, Murdoch, Western Australia, Australia; School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia. Electronic address:

Detection of HFE Haemochromatosis (HH) is challenging in the absence of clinical features. HH subjects have elevated erythrocyte parameters compared to those without HH, but it remains unclear how this could be applied in clinical practice. Thus, we determined the sensitivity, specificity and clinical utility of erythrocyte parameters in 144 HH subjects with (n = 122) or without (n = 22) clinical and/or biochemical expression of iron overload, 1844 general population controls, and 700 chronic disease subjects. Read More

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February 2019
6 Reads

Primary adrenal insufficiency and hemochromatosis - Cause and effect relationship or a coincidence?

Ann Endocrinol (Paris) 2018 Oct 16. Epub 2018 Oct 16.

2nd Department of radiology, medical university of Gdansk, Debinki street 7, 80-211 Gdansk, Poland. Electronic address:

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October 2018
1 Read

Iron Overload in an HFE Heterozygous Carrier: A Case Report and Literature Review.

Lab Med 2018 Oct 18. Epub 2018 Oct 18.

Department of Pathology, University of Texas Medical Branch, Galveston, TX.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and tissue deposition. Three loss-of-function mutations in the hemochromatosis gene (HFE), namely, C282Y (c.845G>A), H63D (c. Read More

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October 2018
4 Reads

Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study.

Medicine (Baltimore) 2018 Oct;97(42):e12886

Department of Internal Medicine, Linth Hospital, Uznach, Switzerland.

Hereditary hemochromatosis (HH) is the most common genetic disease in Caucasians which is characterized by an increased intestinal iron absorption, resulting into a progressive accumulation of iron in organs including liver, heart, and pancreas, leading to their progressive dysfunction. Hepatocellular carcinoma (HCC) is a long-term complication of HH, which contributes to increased mortality.We evaluated the risk factors of HCC in a prospective cohort of Swiss hemochromatosis patients with a long-term follow-up. Read More

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October 2018
1 Read

Role of HAMP Genetic Variants on Pathophysiology of Iron Deficiency Anemia.

Indian J Clin Biochem 2018 Oct 20;33(4):479-482. Epub 2017 Nov 20.

Centre for Biotechnology Studies, Awadhesh Pratap Singh University, Rewa, M.P. 486003 India.

Hepcidin is a 25-amino acid peptide hormone produced by hepatocytes and plays a key role in body iron metabolism. Hepcidin deficiency is the cause of iron overload in hereditary hemochromatosis, iron-loading anemia, and its excess is associated with anemia of inflammation, chronic disease and iron deficiency anemia (IDA). The aims of this study was to evaluate gene mutation, namely IVS2 + 1(-G) (c. Read More

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October 2018
10 Reads

Non-transferrin-bound iron transporters.

Free Radic Biol Med 2018 Oct 12. Epub 2018 Oct 12.

Food Science and Human Nutrition Department, University of Florida, Gainesville, FL, USA. Electronic address:

Most cells in the body acquire iron via receptor-mediated endocytosis of transferrin, the circulating iron transport protein. When cellular iron levels are sufficient, the uptake of transferrin decreases to limit further iron assimilation and prevent excessive iron accumulation. In iron overload conditions, such as hereditary hemochromatosis and thalassemia major, unregulated iron entry into the plasma overwhelms the carrying capacity of transferrin, resulting in non-transferrin-bound iron (NTBI), a redox-active, potentially toxic form of iron. Read More

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October 2018
7 Reads

Opportunistic Screening for Hereditary Hemochromatosis With Unenhanced CT: Determination of an Optimal Liver Attenuation Threshold.

AJR Am J Roentgenol 2018 Dec 9;211(6):1206-1211. Epub 2018 Oct 9.

1 Department of Radiology, University of Wisconsin School of Medicine and Public Health, 600 Highland Ave, Madison, WI 53792.

Objective: The purpose of this study was to assess whether a specific liver attenuation threshold for unenhanced CT allows both sensitive opportunistic detection of unsuspected hereditary hemochromatosis and low overall screening test-positive rates.

Materials And Methods: We used a standard ROI placement method on unenhanced CT studies of 3357 consecutive adults (mean age, 57.0 years) with no symptoms of liver disease who underwent colorectal screening. Read More

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December 2018
2 Reads

[Neonatal haemochromatosis: 10 years into a paradigm shift].

An Pediatr (Barc) 2018 Oct 3. Epub 2018 Oct 3.

Servicio de Neonatología, Hospital Vall d'Hebron, Barcelona, España.

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October 2018
1 Read

Mutations in the HFE gene can be associated with increased lung disease severity in cystic fibrosis.

Gene 2019 Jan 3;683:12-17. Epub 2018 Oct 3.

The Adult Cystic Fibrosis Centre, The Prince Charles Hospital, 4032, Queensland, Australia; School of Medicine, University of Queensland, 4029, Queensland, Australia; Lung Infection and Inflammation Laboratory, QIMR Berghofer Medical Research Institute, 4029, Queensland, Australia.

Background And Objective: Genetic modifiers contribute to variable disease phenotype in cystic fibrosis (CF). We explored the association between mutations in the hemochromatosis (HFE) gene and disease severity in adults with CF.

Methods: HFE genotyping was performed in 163 adults with CF attending a single centre. Read More

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January 2019
3 Reads

Air-blood barrier thickening and alterations of alveolar epithelial type 2 cells in mouse lungs with disrupted hepcidin/ferroportin regulatory system.

Histochem Cell Biol 2018 Oct 3. Epub 2018 Oct 3.

Department of Pediatric Hematology, Oncology and Immunology, University of Heidelberg, Heidelberg, Germany.

Iron accumulates in the lungs of patients with common respiratory diseases or transfusion-dependent beta-thalassemia. Based on our previous work, we hypothesized that systemic iron overload affects the alveolar region of the lung and in particular the surfactant producing alveolar epithelial type II (AE2) cells. Mice with a point mutation in the iron exporter ferroportin, a model for human hemochromatosis type 4 were compared to wildtype mice (n = 5 each). Read More

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October 2018
1 Read

Brain iron loading impairs DNA methylation and alters GABAergic function in mice.

FASEB J 2018 Oct 2:fj201801116RR. Epub 2018 Oct 2.

Department of Pharmaceutical Sciences, Northeastern University, Boston, Massachusetts, USA.

Iron deficiency is closely associated with altered GABA metabolism and affective behavior. While mutation in the hemochromatosis ( HFE) gene disrupts iron homeostasis and promotes oxidative stress that increases the risk of neurodegeneration, it is largely unknown whether HFE mutation modifies GABAergic homeostasis and emotional behavior. The goal of our study was to investigate the impact of HFE on GABAergic neurochemistry and redox-epigenetic regulation in the brain using H67D HFE-mutant mice that recapitulates the H63D-HFE mutation in humans. Read More

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October 2018
2 Reads

The hemochromatosis protein HFE signals predominantly via the BMP type I receptor ALK3 in vivo.

Commun Biol 2018 8;1:65. Epub 2018 Jun 8.

1Department of Anesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, University of Muenster, Albert-Schweitzer Campus 1, 48149 Muenster, Germany.

Mutations in , the most common cause of hereditary hemochromatosis, lead to iron overload. The iron overload is characterized by increased iron uptake due to lower levels of the hepatic, iron regulatory hormone hepcidin. was cloned 21 years ago, but the signaling pathway is still unknown. Read More

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June 2018
1 Read

Chronic iron overload causing haemochromatosis and hepatopathy in 21 horses and one donkey.

Equine Vet J 2018 Sep 30. Epub 2018 Sep 30.

Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, Utrecht, the Netherlands.

Background: Iron toxicosis is rarely reported in horses and chronic excessive oral iron intake has not been reported to cause clinical symptoms in equids.

Objectives: This case series describes 21 genetically unrelated horses and one donkey with chronic iron overload causing haemochromatosis and hepatopathy.

Study Design: Case series. Read More

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September 2018
7 Reads

Alcohol Use in Patients with Chronic Liver Disease.

N Engl J Med 2018 09;379(13):1251-1261

From the Internal Medicine Service, Addiction Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autonoma de Barcelona, Badalona, Spain (D.F.); and the Clinical Addiction Research and Education Unit, Section of General Internal Medicine, Department of Medicine, Boston Medical Center and Boston University School of Medicine, the Grayken Center for Addiction, Boston Medical Center, and the Department of Community Health Sciences, Boston University School of Public Health - all in Boston ( J.H.S.).

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September 2018
4 Reads

Can two-dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis?

Echocardiography 2018 11 25;35(11):1772-1781. Epub 2018 Sep 25.

II Department of Cardiology and Electrotherapy, Medical University of Gdansk, Gdansk, Poland.

Background: Hereditary haemochromatosis (HH) is a common inherited disease. Abnormally increased intestinal iron absorption and accelerated recycling of iron by macrophages lead to progressive body iron accumulation and the generation of oxidative stress. In the late stages, iron overload can lead to dysfunction of the left ventricle (LV). Read More

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November 2018
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Ferroportin disease mutations influence manganese accumulation and cytotoxicity.

FASEB J 2018 Sep 24:fj201800831R. Epub 2018 Sep 24.

Department of Nutritional Sciences, University of Michigan School of Public Health, Ann Arbor, Michigan, USA; and.

Hemochromatosis is a frequent genetic disorder, characterized by the accumulation of excess iron across tissues. Mutations in the FPN1 gene, encoding a cell surface iron exporter [ferroportin (Fpn)], are responsible for hemochromatosis type 4, also known as ferroportin disease. Recently, Fpn has been implicated in the regulation of manganese (Mn), another essential nutrient required for numerous cellular enzymes. Read More

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September 2018
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