For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
8
views
18
references
 Top references
cited by
0
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
1 collections
    0
    shares
      295
      similar
       All similar

      Call for Papers: Beyond Biology: The Crucial Role of Sex and Gender in Oncology

      Submit here before May 31, 2024

      About Oncology Research and Treatment: 2.4 Impact Factor I 3.3 CiteScore I 0.495 Scimago Journal & Country Rank (SJR)

      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Discrepancy between Serum Ferritin and Liver Iron Concentration in a Patient with Hereditary Hemochromatosis – The Value of T2* MRI

      case-report

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Primary hemochromatosis is an inherited disorder, and the homeostatic iron regulator ( HFE) gene C282Y mutation is a common cause of hemochromatosis in Europe. We are reporting a case of a 56-year-old female known to have hemochromatosis with the HFE gene C282Y mutation with a serum ferritin level of 482 μg/L who underwent heart and liver T2* MRI which showed no evidence of iron overload – neither in the heart nor in the liver. This indicates that there is a discrepancy between serum ferritin and liver iron concentration by MRI and the superiority of T2* MRI in diagnosis and follow-up of iron overload in patients with hereditary hemochromatosis.

          Related collections

          Most cited references18

          • Record: found
          • Abstract: found
          • Article: not found

          HFE gene variants affect iron in the brain.

          Wint Nandar, Thomas R. Connor (2011)
          Iron accumulation in the brain and increased oxidative stress are consistent observations in many neurodegenerative diseases. Thus, we have begun examination into gene mutations or allelic variants that could be associated with loss of iron homeostasis. One of the mechanisms leading to iron overload is a mutation in the HFE gene, which is involved in iron metabolism. The 2 most common HFE gene variants are C282Y (1.9%) and H63D (8.9%). The C282Y HFE variant is more commonly associated with hereditary hemochromatosis, which is an autosomal recessive disorder, characterized by iron overload in a number of systemic organs. The H63D HFE variant appears less frequently associated with hemochromatosis, but its role in the neurodegenerative diseases has received more attention. At the cellular level, the HFE mutant protein resulting from the H63D HFE gene variant is associated with iron dyshomeostasis, increased oxidative stress, glutamate release, tau phosphorylation, and alteration in inflammatory response, each of which is under investigation as a contributing factor to neurodegenerative diseases. Therefore, the HFE gene variants are proposed to be genetic modifiers or a risk factor for neurodegenerative diseases by establishing an enabling milieu for pathogenic agents. This review will discuss the current knowledge of the association of the HFE gene variants with neurodegenerative diseases: amyotrophic lateral sclerosis, Alzheimer's disease, Parkinson's disease, and ischemic stroke. Importantly, the data herein also begin to dispel the long-held view that the brain is protected from iron accumulation associated with the HFE mutations.
          Article 0 comments Cited 35 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.

            Antonello Pietrangelo (2015)
            The discovery of hepcidin in 2000 and the subsequent unprecedented explosion of research and discoveries in the iron field have dramatically changed our understanding of human disorders of iron metabolism. Today, hereditary hemochromatosis, the paradigmatic iron-loading disorder, is recognized as an endocrine disease due to the genetic loss of hepcidin, the iron hormone produced by the liver. This syndrome is due to unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs. It is caused by mutations that affect any of the proteins that help hepcidin to monitor serum iron, including HFE and, in rarer instances, transferrin-receptor 2 and hemojuvelin, or make its receptor ferroportin, resistant to the hormone. In Caucasians, C282Y HFE homozygotes are numerous, but they are only predisposed to hemochromatosis; complete organ disease develops in a minority, due to alcohol abuse or concurrent genetic modifiers that are now being identified. HFE gene testing can be used to diagnose hemochromatosis in symptomatic patients, but analyses of liver histology and full gene sequencing are required to identify patients with rare, non-HFE forms of the disease. Due to the central pathogenic role of hepcidin, it is anticipated that nongenetic causes of hepcidin loss (eg, end-stage liver disease) can cause acquired forms of hemochromatosis. The mainstay of hemochromatosis management is still removal of iron by phlebotomy, first introduced in 1950s, but identification of hepcidin has not only shed new light on the pathogenesis of the disease and the approach to diagnosis, but etiologic therapeutic applications from these advances are now foreseen.
            Article 0 comments Cited 27 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: found
              Is Open Access

              Liver Iron Content (LIC) in Adults with Sickle Cell Disease (SCD): Correlation with Serum Ferritin and Liver Enzymes Concentrations in Trasfusion Dependent (TD-SCD) and Non-Transfusion Dependent (NT-SCD) Patients

              Mohamed Yassin, Ashraf S. Soliman, Vincenzo De Sanctis … (2017)
              Introduction Sickle cell disease (SCD) is one of the leading causes of morbidity and mortality worldwide, causing damage and dysfunction in multiple organs. The complications of this disease are numerous, affect every organ and/or tissue in the body and vary considerably among patients over the time challenging its management. The aim of our study To determine the iron status of 17 patients with non-transfusion-dependent sickle cell disease ( NT-SCD) patients and six patients with transfusion dependent sickle cell disease (TD- SCD) using both serum ferritin level (SF) and Ferriscan® evaluation of liver iron content (LIC). We correlated the values of LIC with SF levels and some hepatic enzymes (alanine transaminase-ALT, aspartate aminotransferase -AST, alkaline phosphatase -ALP and albumin). Results 17 adults with NT-SCD (n = 17, age: 32±15 years) were studied. Seven of NT-SCD had SF > 500 μg/L, 4 out of the seven had high liver iron measured by FerriScan® (> 30 mg/g/ tissue dry weight - dw). Two patients had high LIC despite a concomitant SF concentration < 500 μg/L. Two patients had high SF (1.117 μg/L and 675 μg/L) while their LIC was normal (< 30 mg/g/dw). Five patients had elevated ALT and/or AST) concentrations. In TD-SCD (n = 6, age = 25 ± 11 years), 2 patients had SF <500 μg/L, one of them had high LIC (127 mg/g/DW). Liver enzymes were high in two patients. SF concentration correlated significantly with LIC (r = 0.85, p < 0.001). Neither SF level nor LIC was correlated significantly with hepatic enzyme levels. Conclusions A significant number of our patients with NT-SCD had high LIC, high SF and elevated liver enzymes (ALT and AST). Despite some limitations of our study, due to the limited number of NT-SCD patients, these findings have important clinical implications. Therefore, we recommend measuring SF and LIC in NT-SCD patients to apply preventive measures with iron chelation therapy in patients with high LIC.
              Article 0 comments Cited 22 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (publisher-id): CRO
                Journal ID (pmc): CRO
                Journal ID (doi): 10.1159/issn.1662-6575
                Title: Case Reports in Oncology
                Publisher: S. Karger AG
                ISSN (Electronic): 1662-6575
                Publication date Subscription-year: 2020
                Publication date Collection: May – August 2020
                Publication date (Electronic): 24 June 2020
                Volume: 13
                Issue: 2
                Pages: 712-715
                Affiliations
                [_a] aDepartment of Internal Medicine, Hamad Medical Corporation, Doha, Qatar
                [_b] bDepartment of Medical Oncology, National Center for Cancer Care and Research, Hamad Medical Corporation, Doha, Qatar
                Author notes
                *Mustafa A. Al-Tikrity, Department of Internal Medicine, Hamad Medical Corporation, AlRayyan Street, PO Box 3050, Doha (Qatar), Maltikrity@hamad.qa
                Article
                Publisher ID: 507756 Pmcid ID: PMC7383161 Other ID: Case Rep Oncol 2020;13:712–715
                DOI: 10.1159/000507756
                PMC ID: PMC7383161
                PubMed ID: 32774262
                SO-VID: adf2d286-61e8-4875-a0b4-750d67f342da
                Copyright © © 2020 The Author(s). Published by S. Karger AG, Basel
                License:

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                Date received : 05 April 2020
                Date accepted : 05 April 2020
                Page count
                Pages: 4
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Oncology & Radiotherapy,Pathology,Surgery,Obstetrics & Gynecology,Pharmacology & Pharmaceutical medicine,Hematology
                Keywords: Hemochromatosis,MRI,Ferritin,Liver iron concentration
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy, Pathology, Surgery, Obstetrics & Gynecology, Pharmacology & Pharmaceutical medicine, Hematology
                Keywords: Hemochromatosis, MRI, Ferritin, Liver iron concentration

                Comments

                Comment on this article