Hereditary Hemochromatosis
September 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:- 174 G>C IL-6 polymorphism and primary iron overload in male patients.
Authors:Tetzlaff WF, Merono T, Botta EE, Martin ME, Sorroche PB, Boero LE, Castro M, Frechtel GD, Rey J, Daruich J, Cerrone GE, Brites F
Institution:Laboratorio Lipidos y Aterosclerosis, Departamento de Bioquimica Clinica, Facultad de Farmacia y Bioquimica, Universidad de Buenos Aires, Junin 956 (1113), Buenos Aires, Argentina.; Universidad de Buenos Aires, Facultad de Farmacia y Bioquimica, Instituto Fisiopatologia y Bioquimica Clinica (INFIBIOC), Buenos Aires, Argentina.; Consejo Nacional de Investigacion Cientificas y Tecnicas (CONICET), Buenos Aires, Argentina.; Hospital Italiano de Buenos Aires, Laboratorio Central, Buenos Aires, Argentina.; Hospital de clinicas 'Jose de San Martin', Departamento de Hemoterapia y Inmunohematologia, Division de Transfusion y Transmision de enfermedades, Universidad de Buenos Aires, Buenos Aires, Argentina.
Journal:Ann Hematol. 2018 Sep;97(9):1683-1687. doi: 10.1007/s00277-018-3333-6. Epub 2018 Apr 14.

2:Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report.
Authors:Cooray SD, Heerasing NM, Selkrig LA, Subramaniam VN, Hamblin PS, McDonald CJ, McLean CA, McNamara E, Leet AS, Roberts SK
Institution:Department of Endocrinology & Diabetes, The Alfred Hospital, Melbourne, VIC, 3004, Australia. 3004, Australia. Melbourne, VIC, 3004, Australia. Brisbane, QLD, 4006, Australia. 3004, Australia. University of Melbourne, Melbourne, VIC, 3021, Australia. Brisbane, QLD, 4006, Australia. Australia. Melbourne, VIC, 3004, Australia. 3004, Australia.
Journal:J Med Case Rep. 2018 Jan 26;12(1):18. doi: 10.1186/s13256-017-1526-6.

3:Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma.
Authors:Al Qasem MA, Hanna F, Vithanarachchi US, Khalafallah AA
Institution:Faculty of Health Sciences, University of Tasmania, Launceston, Tasmania, Australia. Australia. Australia. Australia.
Journal:BMJ Case Rep. 2018 Jan 4;2018. pii: bcr-2017-222700. doi: 10.1136/bcr-2017-222700.

4:Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Authors:Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G
Institution:Medical Genetics, Molecular Medicine Department, Sapienza University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. Camillo-Forlanini Hospital, Rome, Italy. Nuclear Physics, Roma Tre Section, Rome, Italy. Camillo-Forlanini Hospital, Rome, Italy. Camillo-Forlanini Hospital, Rome, Italy. Camillo-Forlanini Hospital, Rome, Italy. Electronic address: Electronic address:
Journal:Biochim Biophys Acta. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14.

5: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.

6:From the bottom of the heart: Measuring liver iron concentration on cardiac MRI.
Authors:Tan S, Peng Q, Liszewski MC, Taragin BH
Institution:Montefiore Medical Center, Radiology Department, 111 East 210th Street, Bronx, NY 10467, United States. Electronic address: QC, H1T 1C8, Canada. QC, H1T 1C8, Canada. QC, H1T 1C8, Canada.
Journal:Clin Imaging. 2018 Jan - Feb;47:124-129. doi: 10.1016/j.clinimag.2017.09.008. Epub 2017 Sep 13.

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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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