11,168 results match your criteria Hemochromatosis

Iron overload, oxidative stress and vascular dysfunction: Evidences from clinical studies and animal models.

Biochim Biophys Acta Gen Subj 2022 May 18:130172. Epub 2022 May 18.

Department of Physiological Sciences, Federal University of Espirito Santo, Vitória, ES, Brazil.

Although iron is a metal involved in many in vital processes due to its redox capacity, body iron overloads lead to tissue damage, including the cardiovascular system. While cardiomyopathy was the focus since the 1960s, the impact on the vasculature was comparatively neglected for about 40 years, when clinical studies correlating iron overload, oxidative stress, endothelial dysfunction, arterial stiffness and atherosclerosis reinforced an "iron hypothesis". Due to controversial results from some epidemiological studies investigating atherosclerotic events and iron levels, well-controlled trials and animal studies provided essential data about the influence of iron, per se, on the vasculature. Read More

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Hemochromatosis redefined.

Chaim Hershko

Blood 2022 May;139(20):3001-3002

Shaare Zedek Medical Center.

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A New Pathogenic Missense Variant in a Consanguineous North-African Family Responsible for a Highly Variable Aceruloplasminemia Phenotype: A Case-Report.

Front Neurosci 2022 2;16:906360. Epub 2022 May 2.

Département de Médecine Interne et Centre de Référence Mucoviscidose, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Pierre-Bénite, France.

Aceruloplasminemia is a rare autosomal recessive inherited disorder. Mutations in the ceruloplasmin gene cause depressed ferroxidase activity leading to iron accumulation. The clinical phenotype is highly variable: anemia, retinopathy, diabetes mellitus, psychiatric disorders, and neurological symptoms including parkinsonian disorders and dementia are the main features of this disease. Read More

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Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: associations in a large community cohort.

Hepatology 2022 May 14. Epub 2022 May 14.

Epidemiology and Public Health Group, University of Exeter, College House, St. Luke's Campus, Exeter, EX1 2LU, UK.

Background: The iron overload condition Hereditary Heamochromatosis (HH) can cause liver cirrhosis and cancer, diabetes and arthritis. Male HFE p.C282Y homozygotes have greatest risk, yet only a minority develop these conditions. Read More

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Pathogenesis of Liver Fibrosis and Its TCM Therapeutic Perspectives.

Evid Based Complement Alternat Med 2022 28;2022:5325431. Epub 2022 Apr 28.

Heilongjiang University of Chinese Medicine, Chinese Medicine Research Institute, Heilongjiang, Haerbin 150040, China.

Liver fibrosis is a pathological process of abnormal tissue proliferation in the liver caused by various pathogenic factors, which will further develop into cirrhosis or even hepatocellular carcinoma if liver injury is not intervened in time. As a diffuse progressive liver disease, its clinical manifestations are mostly excessive deposition of collagen-rich extracellular matrix resulting in scar formation due to liver injury. Hepatic fibrosis can be caused by hepatitis B and C, fatty liver, alcohol, and rare diseases such as hemochromatosis. Read More

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Report of a Rare Case of Beta-Thalassemia Major With Subperiosteal Hematomas.

Cureus 2022 Apr 2;14(4):e23770. Epub 2022 Apr 2.

Surgery Department, Hamad Medical Corporation, Doha, QAT.

Beta-thalassemia represents a range of hemoglobinopathies that are a consequence of an impairment in the synthesis of beta-globin chains. They result in different degrees of hemolysis and ineffective erythropoiesis, depending on the underlying mutations. They can lead to severe complications mainly resulting from anemia. Read More

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Proton pump inhibition for secondary hemochromatosis in hereditary anemia: a phase III placebo-controlled randomized cross-over clinical trial.

Am J Hematol 2022 Apr 26. Epub 2022 Apr 26.

Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Iron overload is a severe general complication of hereditary anemias. Treatment with iron chelators is hampered by important side-effects, high costs, and the lack of availability in many countries with a high prevalence of hereditary anemias. In this phase III randomized placebo-controlled trial, we assigned adults with non-transfusion-dependent hereditary anemias with mild-to-moderate iron overload to receive esomeprazole (at a dose of 40 mg twice daily) or placebo for 12 months in a cross-over design. Read More

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A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report.

Front Genet 2022 8;13:836431. Epub 2022 Apr 8.

Beijing Youan Hospital, Capital Medical University, Beijing, China.

Type 3 hereditary hemochromatosis (HH) is a rare form of HH characterized by genetic mutation in the gene. Clinical features reported in patients with type 3 HH include abnormal liver function, liver fibrosis, cirrhosis, diabetes, hypogonadism, cardiomyopathy, and skin pigmentation. Since its original description in 2000, 33 pathogenic mutations associated with HH have been described until now. Read More

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[A case of hemochromatosis associated with transferrin receptor 2 gene mutations].

Zhonghua Gan Zang Bing Za Zhi 2022 Mar;30(3):325-327

Department of Infectious, The First Hospital of Shanxi Medical University, Taiyuan 030000, China.

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Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.

Genes (Basel) 2022 03 24;13(4). Epub 2022 Mar 24.

Laboratory of Medical Genetics, B.V. Petrovsky Russian Research Center of Surgery, 119991 Moscow, Russia.

A 28 year-old male with restrictive cardiomyopathy (RCM) and endocardium thickening, conduction disorders, heart failure, and depressive disorder treated with paroxetine was admitted to the clinic. Blood tests revealed an increase in serum iron level, transferrin saturation percentage, and slightly elevated liver function tests. Sarcoidosis, storage diseases and Loeffler endocarditis were ruled out. Read More

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Juvenile Hemochromatosis due to a Homozygous Variant in the Gene.

Case Rep Pediatr 2022 11;2022:7743748. Epub 2022 Apr 11.

Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.

Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in and genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis. Read More

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Cardiac Magnetic Resonance at 3.0 T in Patients With C282Y Homozygous Hereditary Hemochromatosis: Superiority of Radial and Circumferential Strain Over Cardiac T2* Measurements at Baseline and at Post Venesection Follow-up.

J Thorac Imaging 2022 Apr 18. Epub 2022 Apr 18.

Institute of Cardiovascular Science, St James Hospital.

Background: Iron-overload cardiomyopathy initially manifests with diastolic dysfunction and can progress to dilated cardiomyopathy if untreated. Previous studies have shown that patients with primary and secondary hemochromatosis can have subclinical left ventricle dysfunction with abnormalities on strain imaging. This study aimed to evaluate the relationship between cardiac T2* values and myocardial-wall strain in patients with hereditary hemochromatosis (HH) at the time of diagnosis and after a course of venesection treatment. Read More

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Arthritis Prediction of Advanced Hepatic Fibrosis in HFE Hemochromatosis.

Mayo Clin Proc 2022 Apr 11. Epub 2022 Apr 11.

Department of Gastroenterology and 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:

Objective: To evaluate whether arthritis predicts the likelihood of advanced hepatic fibrosis in HFE hemochromatosis.

Patients And Methods: We conducted a retrospective, cross-sectional analysis of 112 well-characterized patients with HFE hemochromatosis and liver biopsy-validated fibrosis staging recruited between January 1, 1983, and December 31, 2013. Complete clinical, biochemical, hematologic, and noninvasive serum biochemical indices (aspartate aminotransferase to platelet ratio index [APRI] and fibrosis 4 index [FIB4]) were available. Read More

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The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.

Blood Sci 2022 Jan 6;4(1):29-37. Epub 2021 Dec 6.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

Variants in the solute carrier family 40 member 1 (SLC40A1) gene are the molecular basis of ferroportin disease, which is an autosomal dominant hereditary hemochromatosis. Here, we present a patient with pure red cell aplasia (PRCA) and large granular lymphocytic leukemia (LGLL) associated with an extremely high levels of serum ferritin and iron overload syndrome. Whole exon sequencing revealed a novel heterozygous variant in SLC40A1 (p. Read More

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January 2022

Liver iron quantification in children and young adults: comparison of a volumetric multi-echo 3-D Dixon sequence with conventional 2-D T2* relaxometry.

Pediatr Radiol 2022 Apr 6. Epub 2022 Apr 6.

Department of Radiology and Imaging Sciences, Emory University School of Medicine, Atlanta, GA, USA.

Background: Magnetic resonance imaging (MRI)-based liver iron quantification is the standard of care to guide chelation therapy in children at risk of hemochromatosis. T2* relaxometry is the most widely used technique but requires third-party software for post-processing. Vendor-provided three-dimensional (3-D) multi-echo Dixon techniques are now available that allow inline/automated post-processing. Read More

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Risk Factors for Colorectal Polyps and Cancer.

Gastrointest Endosc Clin N Am 2022 Apr 22;32(2):195-213. Epub 2022 Feb 22.

Division of Gastroenterology and Hepatology, University of North Carolina School of Medicine, CB 7080, 130 Mason Farm Road, Chapel Hill, NC 27599-7555, USA. Electronic address:

Colorectal cancer (CRC) is a common malignancy in the U.S. and worldwide. Read More

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Iron Promotes Cardiac Doxorubicin Retention and Toxicity Through Downregulation of the Mitochondrial Exporter ABCB8.

Front Pharmacol 2022 11;13:817951. Epub 2022 Mar 11.

Department of Pharmaceutical Sciences, Northeastern University, Boston, MA, United States.

In several cancers, the efflux and resistance against doxorubicin (DOX), an effective anticancer drug, are associated with cellular iron deficiency and overexpression of the mitochondrial exporter ABCB8. Conversely, decreased ABCB8 expression and disrupted iron homeostasis in the heart have been implicated in DOX-associated cardiotoxicity. While studies have demonstrated that altered iron status can modulate the susceptibility to DOX cardiotoxicity, the exact molecular mechanisms have not been clearly understood. Read More

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Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major β- Thalassemia.

Arch Razi Inst 2021 Nov 30;76(5):1551-1554. Epub 2021 Nov 30.

Department of Biology, College of Science, Al Muthanna University, Samawah, Iraq.

Thalassemia is an inherited blood disorder in which the body produces defective hemoglobin. One of the important processes to reduce the complication of major β-thalassemia is blood transfusion that leads to elevated ferritin levels in the blood. Many patients who have major β-thalassemia may have hemochromatosis conditions resulting from iron metabolism disorders. Read More

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November 2021

An exploratory pilot study on the involvement of APOE, HFE, C9ORF72 variants and comorbidities in neurocognitive and physical performance in a group of HIV-infected people.

Metab Brain Dis 2022 Jun 30;37(5):1569-1583. Epub 2022 Mar 30.

Department of Clinical and Experimental Sciences, University of Brescia, 25123, Brescia, Italy.

Cognitive decline of aging is modulated by chronic inflammation and comorbidities. In people with HIV-infection (PWH) it may also be affected by HIV-induced inflammation, lifestyle and long-term effects of antiretroviral therapies (ART). The role of genetics in the susceptibility to HIV-associated neurocognitive disorders (HAND) is not fully understood. Read More

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Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling.

Rev Cardiovasc Med 2022 Mar;23(3):108

Heart Institute, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN 38103, USA.

Restrictive cardiomyopathy (RCM), a potentially devastating heart muscle disorder, is characterized by diastolic dysfunction due to abnormal muscle relaxation and myocardial stiffness resulting in restrictive filling of the ventricles. Diastolic dysfunction is often accompanied by left atrial or bi-atrial enlargement and normal ventricular size and systolic function. RCM is the rarest form of cardiomyopathy, accounting for 2-5% of pediatric cardiomyopathy cases, however, survival rates have been reported to be 82%, 80%, and 68% at 1-, 2-, and 5-years after diagnosis, respectively. Read More

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COVID-19, Cation Dysmetabolism, Sialic Acid, CD147, ACE2, Viroporins, Hepcidin and Ferroptosis: A Possible Unifying Hypothesis.

F1000Res 2022 27;11:102. Epub 2022 Jan 27.

Department of Clinical Medicine, Internal Medicine Division,, ARNAS Civico Di Cristina Benfratelli Hospital Trust, Palermo, Italy.

iron and calcium dysmetabolism, with hyperferritinemia, hypoferremia, hypocalcemia and anemia have been documented in the majority of COVID-19 patients at later/worse stages. Furthermore, complementary to ACE2, both sialic acid (SA) molecules and CD147 proved relevant host receptors for SARS-CoV-2 entry, which explains the viral attack to multiple types of cells, including erythrocytes, endothelium and neural tissue. Several authors advocated that cell ferroptosis may be the core and final cell degenerative mechanism. Read More

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Disseminated spp. Endocarditis in a Beta-Thalassemia Patient after Asymptomatic COVID-19 Infection.

Diagnostics (Basel) 2022 Mar 8;12(3). Epub 2022 Mar 8.

Department of Pediatric Cardiology, "Marie Curie" Emergency Children's Hospital, 041451 Bucharest, Romania.

spp. is a group of fungi belonging to the order. Cases of fungal endocarditis are sporadic, but more frequent in immunocompromised patients. Read More

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The effect of a natural polyphenol supplement on iron absorption in adults with hereditary hemochromatosis.

Eur J Nutr 2022 Mar 23. Epub 2022 Mar 23.

Laboratory of Human Nutrition, Institute of Food Nutrition and Health, Department of Health Science and Technology, Swiss Federal Institute of Technology (ETH Zurich), LFV D27.2, Schmelzbergstrasse 7, CH8092, Zurich, Switzerland.

Objectives: We developed a natural polyphenol supplement that strongly chelates iron in vitro and assessed its effect on non-heme iron absorption in patients with hereditary hemochromatosis (HH).

Methods: We performed in vitro iron digestion experiments to determine iron precipitation by 12 polyphenol-rich dietary sources, and formulated a polyphenol supplement (PPS) containing black tea powder, cocoa powder and grape juice extract. In a multi-center, single-blind, placebo-controlled cross-over study, we assessed the effect of the PPS on iron absorption from an extrinsically labelled test meal and test drink in patients (n = 14) with HH homozygous for the p. Read More

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MRI as a Aiagnostic Tool for Paroxysmal Nocturnal Hemoglobinuria: A Case Report.

Sisli Etfal Hastan Tip Bul 2021 29;55(4):565-568. Epub 2021 Dec 29.

Department of Radiology, University of Health Sciences Turkey, Sisli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.

Paroxysmal nocturnal hemoglobinuria (PNH) is a type of hematopoietic stem cell disease and the clinical manifestation of the disease is mainly a combination of anemia and thrombosis. Intravascular hemolysis in PNH leads to hemosiderosis in renal cortex as a rare pattern of hemochromatosis. With this case presentation, we aim to show the radiological findings of this disease. Read More

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December 2021

The role of disrupted iron homeostasis in the development and progression of arthropathy.

J Orthop Res 2022 Jun 24;40(6):1243-1250. Epub 2022 Mar 24.

Department of Medical Laboratory Sciences, College of Health Sciences, University of Sharjah, Sharjah, United Arab Emirates.

Arthropathy or joint disease leads to significant pain and disability irrespective of etiology. Clinical and experimental evidence point to the presence of considerable links between arthropathy and iron overload. Previous work has suggested that iron accumulation in the joints is often associated with increased oxidative stress, disrupted matrix metabolism, and cartilage degeneration. Read More

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Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium.

Transplant Cell Ther 2022 Mar 11. Epub 2022 Mar 11.

Division of Hematology, Oncology, Blood and Marrow Transplant, Nationwide Children's Hospital, Columbus, Ohio.

Hematopoietic cell transplantation (HCT) is the sole curative option for congenital dyserythropoietic anemia (CDA), a rare type of hemolytic anemia characterized by anemia, ineffective erythropoiesis, and secondary hemochromatosis. In this retrospective multicenter study, we report the outcomes of children with CDA who underwent HCT at participating Pediatric Transplantation and Cellular Therapy Consortium centers. Clinical information on HCT and associated outcomes was collected retrospectively using a common questionnaire. Read More

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Hereditary hemochromatosis: data from a single center Copenhagen cohort.

Scand J Gastroenterol 2022 Mar 7:1-6. Epub 2022 Mar 7.

Division of Gastroenterology, Digestive Disease Center K, Bispebjerg Hospital, Copenhagen, NV, Denmark.

Objectives: We aimed to describe a cohort of hereditary hemochromatosis (HH) patients from a single urban center in Copenhagen.

Methods: Retrospectively, data from patients with HH from the years 2009-2020 were collected.

Results: A total of 203 patients was recorded. Read More

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Upregulation of Nrf2 signaling and suppression of ferroptosis and NF-κB pathway by leonurine attenuate iron overload-induced hepatotoxicity.

Chem Biol Interact 2022 Apr 3;356:109875. Epub 2022 Mar 3.

Medical Biochemistry Division, Pathology Department, Jouf University, Sakaka, 72345, Saudi Arabia; Medical Biochemistry Department, Faculty of Medicine, Beni-Suef University, Beni-Suef, 62514, Egypt.

Hepatotoxicity is a major health concern that associates the iron overload diseases including hemochromatosis, sickle cell anemia, and thalassemia. Induction of ferroptosis, oxidative stress, and inflammation substantially mediates the iron-evoked hepatotoxicity. The current work investigated the potential protective effect of the natural alkaloid leonurine against the iron-induced hepatotoxicity and elucidated the underlining molecular mechanisms. Read More

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