Hereditary Hemochromatosis
January 2017 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.

Authors:Powell LW, Seckington RC, Deugnier Y
Institution:Centre for the Advancement of Clinical Research, Royal Brisbane and Women's Hospital, Brisbane, The University of Queensland, Brisbane, Australia. Electronic address: Brisbane, Australia.
Journal:Lancet. 2016 Aug 13;388(10045):706-16. doi: 10.1016/S0140-6736(15)01315-X. Epub 2016 Mar 12.

2:Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Authors:Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D
Institution:Department of Medicine, Section of Internal Medicine, University of Verona, Verona, Italy. Verona, Italy. Verona, Italy. Italy. Verona, Verona, Italy. Verona, Italy. Verona, Italy. Verona, Italy. Verona, Italy. Interdisciplinare Sulle Malattie Del Ferro), Azienda Ospedaliera Uiversitaria Integrata Verona, Verona, Italy.
Journal:Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304.

3:Risk Factors for Insulin Resistance, Metabolic Syndrome, and Diabetes in 248 HFE C282Y Homozygotes Identified by Population Screening in the HEIRS Study.
Authors:Barton JC
Institution:1 Southern Iron Disorders Center , Birmingham, Alabama. Alabama. .
Journal:Metab Syndr Relat Disord. 2016 Mar;14(2):94-101. doi: 10.1089/met.2015.0123. Epub 2016 Jan 15.

4:Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomized crossover trial.
Authors:Rombout-Sestrienkova E, Winkens B, Essers BA, Nieman FH, Noord PA, Janssen MC, van Deursen CT, Boonen A, Reuser-Kaasenbrood EP, Heeremans J, van Kraaij M, Masclee A, Koek GH
Institution:Department of Transfusion Medicine, Sanquin Blood Supply, Amsterdam, the Netherlands. University Medical Centre, Maastricht, the Netherlands. Care (CAPHRI), Maastricht University. Nijmegen, the Netherlands. Heerlen/Brunssum/Sittard, the Netherlands. Netherlands. Netherlands. Netherlands. University Medical Centre, Maastricht, the Netherlands. University Medical Centre, Maastricht, the Netherlands.
Journal:Transfusion. 2016 Jan;56(1):261-70. doi: 10.1111/trf.13328. Epub 2015 Sep 10.

5:Proton Pump Inhibitors Reduce the Frequency of Phlebotomy in Patients With Hereditary Hemochromatosis.
Authors:van Aerts RM, van Deursen CT, Koek GH
Institution:Division of Gastroenterology and Hepatology, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands. Electronic address: Parkstad, Heerlen, The Netherlands. Toxicology and Metabolism Research, Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands.
Journal:Clin Gastroenterol Hepatol. 2016 Jan;14(1):147-52. doi: 10.1016/j.cgh.2015.06.043. Epub 2015 Aug 1.

6:EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Authors:Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S
Institution:Center for Predictive and Preventive Genetics (CGPP), Institute of Molecular and Cellular Biology (IBMC), Porto, Portugal. Molecular Pathology and Immunology, Abel Salazar Institute for Biomedical Sciences (ICBAS), University of Porto, Porto, Portugal. National Reference Centre for Rare Iron Overload Diseases of Genetic Origin, Rennes, France. The Netherlands. Innsbruck, Innsbruck, Austria. Cellular Biology (IBMC), Porto, Portugal. Manchester, UK.
Journal:Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8.

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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."
Perth Amboy, New Jersey

"Your Guidebook on Hereditary Hemochromatosis contains a wealth of information that has helped our family answer many of the questions we had about this relatively obscure genetic disease. The Guidebook allowed us to fully understand the disease and know what to ask...and who to ask to additional information."
St. Joseph, Missouri

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