Hereditary Hemochromatosis
June 2018 Issue

Nearly every major medical breakthrough over the past 50 years can be attributed to new discoveries that were made possible through meticulous biomedical research. Many diseases and conditions that previously took a heavy toll on patients in terms of both morbidity and mortality are now either treatable or preventable thanks in large part to painstaking research that expanded the frontiers of scientific knowledge and moved the most promising basic research developments into tangible health benefits through human clinical trails. Ongoing research is also the key that will open the door to additional major medical advances and breakthroughs in the future.

Our staff at Medifocus is committed to keeping our subscribers to the Medifocus Digest Alert on Hereditary Hemochromatosis abreast of the latest new research developments that have recently been published in the medical literature for this condition. In this issue of the Digest Alert, you will find a focused list of hand-picked journal article references that represent the latest advances in basic and clinical research for Hereditary Hemochromatosis. These articles represent the current state-of-the-art of the research that will hopefully lead to additional major advances and breakthroughs in the clinical management of Hereditary Hemochromatosis. You can access the summaries of each article referenced below by simply clicking on the article Title.

We will continue to update you with the latest scientific and clinical developments through the Medifocus Digest Alert on Hereditary Hemochromatosis every 3 months. Thank you for your ongoing subscription to this publication.

Elliot Jacob, Ph.D.
Vice-President - Content, Inc.

1:Haemochromatosis: Pathophysiology and the red blood cell1.
Authors:Richardson KJ, McNamee AP, Simmonds MJ
Institution:Biorheology Research Laboratory, Griffith University, Gold Coast, Australia.
Journal:Clin Hemorheol Microcirc. 2018;69(1-2):295-304. doi: 10.3233/CH-189128.

2:Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management.
Authors:Brissot P, Cavey T, Ropert M, Guggenbuhl P, Loreal O
Institution:University of Rennes 1, Hepatology, Faculty of Medicine, 2, avenue du Pr. Leon-Bernard, 35000 Rennes, France; Inserm-UMR 991, 2, rue Henri-Le-Guilloux, 35033 Rennes, France. Electronic address: Department of Specialized Biochemistry, 2, rue Henri-Le-Guilloux, 35033 Rennes, France. Department of Specialized Biochemistry, 2, rue Henri-Le-Guilloux, 35033 Rennes, France. Department of Rheumatology, 2, rue Henri-Le-Guilloux, Rennes, France.
Journal:Presse Med. 2017 Dec;46(12 Pt 2):e288-e295. doi: 10.1016/j.lpm.2017.05.037. Epub 2017 Nov 20.

3:The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.
Authors:Kawabata H
Institution:Department of Hematology and Immunology, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa-ken, 920-0293, Japan.
Journal:Int J Hematol. 2018 Jan;107(1):31-43. doi: 10.1007/s12185-017-2365-3. Epub 2017 Nov 13.

4:Ultrasound verified inflammation and structural damage in patients with hereditary haemochromatosis-related arthropathy.
Authors:Dejaco C, Stadlmayr A, Duftner C, Trimmel V, Husic R, Krones E, Zandieh S, Husar-Memmer E, Zollner G, Hermann J, Gretler J, Lackner A, Ficjan A, Datz C, Axman R, Zwerina J
Institution:Department of Rheumatology and Immunology, Medical University Graz, Auenbruggerplatz 15, A-8036, Graz, Austria.; Department of Rheumatology, Hospital of Bruneck, Spitalstrasse 11, 39031, Bruneck, Italy.; Department of Internal Medicine, General Hospital Oberndorf, Teaching Hospital of the Paracelsus Medical University Salzburg, Paracelsusstrasse 37, 5110, Oberndorf bei, Salzburg, Austria.; Department of Internal Medicine VI, Medical University Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.; Department of Radiology, Medical University Graz, Auenbruggerplatz 9, 8036, Graz, Austria.
Journal:Arthritis Res Ther. 2017 Oct 24;19(1):243. doi: 10.1186/s13075-017-1448-0.

5:Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature.
Authors:Zhang W, Lv T, Huang J, Ou X
Institution:aLiver Research Center, Beijing Key Laboratory of Translational Medicine in Liver Cirrhosis, Beijing Friendship Hospital, Capital Medical University bNational Clinical Research Center for Digestive Diseases cExperimental Center, Beijing Friendship Hospital, Capital Medical University; Beijing, China.
Journal:Medicine (Baltimore). 2017 Sep;96(38):e8064. doi: 10.1097/MD.0000000000008064.

6:Heart and heart-liver transplantation in patients with hemochromatosis.
Authors:Robinson MR, Al-Kindi SG, Oliveira GH
Institution:Advanced Heart Failure and Transplantation Center, Harrington Heart and Vascular Institute, University Hospitals Cleveland Medical Center, Cleveland, OH, United States. Electronic address:
Journal:Int J Cardiol. 2017 Oct 1;244:226-228. doi: 10.1016/j.ijcard.2017.06.075. Epub 2017 Jun 21.

7:Proton Pump Inhibitors Decrease Phlebotomy Need in HFE Hemochromatosis: Double-Blind Randomized Placebo-Controlled Trial.
Authors:Vanclooster A, van Deursen C, Jaspers R, Cassiman D, Koek G
Institution:Department of Gastroenterology-Hepatology and Metabolic Center, University Hospital Leuven, Belgium. Zuyderland Medical Center, Heerlen, The Netherlands; Department of Internal Medicine, Division of Gastroenterology and Hepatology, Maastricht UMC+, The Netherlands. Netherlands. Hospital Leuven, Belgium. Maastricht UMC+, The Netherlands; Nutrition and Translational Research in Metabolism (NUTRIM), University Maastricht, The Netherlands; Department of Surgery, University Hospital of the RWTH, Aachen, Germany. Electronic address:
Journal:Gastroenterology. 2017 Sep;153(3):678-680.e2. doi: 10.1053/j.gastro.2017.06.006. Epub 2017 Jun 15.

8:Hyperferritinemia and inflammation.
Authors:Kernan KF, Carcillo JA
Institution:Department of Critical Care Medicine, University of Pittsburgh, 3550 Terrace Street, Pittsburgh, PA 15261, USA. Street, Pittsburgh, PA 15261, USA.
Journal:Int Immunol. 2017 Nov 1;29(9):401-409. doi: 10.1093/intimm/dxx031.

Authors:Menghini M, Prunte C, Krayenbuehl PA, Nowak A
Institution:Vista Diagnostics, Zurich, Switzerland.
Journal:Retina. 2018 Mar;38(3):594-599. doi: 10.1097/IAE.0000000000001577.

10:Pathophysiological consequences and benefits of HFE mutations: 20 years of research.
Authors:Hollerer I, Bachmann A, Muckenthaler MU
Institution:Molecular Medicine Partnership Unit (MMPU), Heidelberg, Germany. Heidelberg, Germany. Heidelberg, Germany.
Journal:Haematologica. 2017 May;102(5):809-817. doi: 10.3324/haematol.2016.160432. Epub 2017 Mar 9.

11:Interventions for hereditary haemochromatosis: an attempted network meta-analysis.
Authors:Buzzetti E, Kalafateli M, Thorburn D, Davidson BR, Tsochatzis E, Gurusamy KS
Institution:Sheila Sherlock Liver Centre, Royal Free Hospital and the UCL Institute of Liver and Digestive Health, London, UK.; Department of Surgery, Royal Free Campus, UCL Medical School, Pond Street, London, UK, NW3 2QG.
Journal:Cochrane Database Syst Rev. 2017 Mar 8;3:CD011647. doi: 10.1002/14651858.CD011647.pub2.

12:Serum ferritin concentration predicts hepatic fibrosis better than hepatic iron concentration in human HFE-Haemochromatosis.
Authors:Wood MJ, Crawford DHG, Wockner LF, Powell LW, Ramm GA
Institution:Hepatic Fibrosis Group, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Hospital, Brisbane, Queensland, Australia. Australia. Australia. Queensland, Australia.
Journal:Liver Int. 2017 Sep;37(9):1382-1388. doi: 10.1111/liv.13395. Epub 2017 Mar 17.

13:Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy.
Authors:Bardou-Jacquet E, Laine F, Guggenbuhl P, Morcet J, Jezequel C, Guyader D, Moirand R, Deugnier Y
Institution:CHU Rennes, Service des Maladies du Foie and Centre National de Reference des Surcharges en Fer Rares, Rennes, France; INSERM, CIC 1414, Rennes, France; University of Rennes 1, Faculty of Medicine, Rennes, France. Electronic address:; CHU Rennes, Service des Maladies du Foie and Centre National de Reference des Surcharges en Fer Rares, Rennes, France; INSERM, CIC 1414, Rennes, France.; University of Rennes 1, Faculty of Medicine, Rennes, France; CHU Rennes, Service de Rhumatologie, Rennes, France; INSERM UMR 991, Rennes, France.; CHU Rennes, Service des Maladies du Foie and Centre National de Reference des Surcharges en Fer Rares, Rennes, France; University of Rennes 1, Faculty of Medicine, Rennes, France.
Journal:Clin Gastroenterol Hepatol. 2017 Oct;15(10):1620-1627. doi: 10.1016/j.cgh.2016.12.039. Epub 2017 Jan 20.

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What Our Customers Are Saying...

"The MediFocus Guidebook on Hereditary Hemochromatosis was not only extremely informative and well-written but it also explained the genetic aspects of this condition in a way that can be readily understood even by people who donít have a medical or scientific background. I was pleased to learn that so much research is ongoing worldwide to try to better understand the causes of this condtion and, hopefully, come up with a way to prevent this disorder from happening in the first place."
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