Hereditary Hemochromatosis
April 2016 Issue
 
 
 

Each month hundreds of thousands of consumers and healthcare professionals search the National Library of Medicine's Medline database seeking the latest information on their disease/condition. Conducting a thorough and effective Medline search is both a time consuming and daunting task. At Medifocus, we have developed an effective solution to this problem: each month our staff of expert researchers searches Medline for the latest advances in research and clinical medicine for over 70 diseases / conditions. We do this with one goal in mind: to empower you to effectively take control over your health.

Here is the result of our team's work in Hereditary Hemochromatosis this month:

1:Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network.
Authors:Gallego CJ, Burt A, Sundaresan AS, Ye Z, Shaw C, Crosslin DR, Crane PK, Fullerton SM, Hansen K, Carrell D, Kuivaniemi H, Derr K, de Andrade M, McCarty CA, Kitchner TE, Ragon BK, Stallings SC, Papa G, Bochenek J, Smith ME, Aufox SA, Pacheco JA, Patel V, Friesema EM, Erwin AL, Gottesman O, Gerhard GS, Ritchie M, Motulsky AG, Kullo IJ, Larson EB, Tromp G, Brilliant MH, Bottinger E, Denny JC, Roden DM, Williams MS, Jarvik GP
Institution:Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Pharmaceutical Outcomes Research and Policy Program, Department of Pharmacy, University of Washington, Seattle, WA 98195, USA. Electronic address: cgallego@med.umich.edu. Seattle, WA 98195, USA. Clinic, Rochester, MN 55905, USA. Seattle, WA 98195, USA. Seattle, WA 98195, USA. Washington, Seattle, WA 98104, USA. 98195, USA. USA. USA. PA 17822, USA. PA 17822, USA. Research, Mayo Clinic, Rochester, MN 55905, USA. 54449, USA. University School of Medicine, Nashville, TN 37203, USA. University School of Medicine, Nashville, TN 37203, USA. Nashville, TN 37232, USA. University, Chicago, IL 60611, USA. University, Chicago, IL 60611, USA. University, Chicago, IL 60611, USA. University, Chicago, IL 60611, USA. Medicine, Northwestern University, Chicago, IL 60611, USA. Mount Sinai, New York, NY 10029, USA. Mount Sinai, New York, NY 10029, USA. School of Medicine, Philadelphia, PA 19140, USA. University Park, PA 16802, USA. Seattle, WA 98195, USA. Clinic, Rochester, MN 55905, USA. USA. PA 17822, USA. 54449, USA. Mount Sinai, New York, NY 10029, USA. Nashville, TN 37232, USA; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. 37232, USA; Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. Seattle, WA 98195, USA. Electronic address: gjarvik@medicine.washington.edu.
Journal:Am J Hum Genet. 2015 Oct 1;97(4):512-20. doi: 10.1016/j.ajhg.2015.08.008. Epub 2015 Sep 10.

2:Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin.
Authors:Pietrangelo A
Institution:Unit of Internal Medicine 2 and Centre for Hemochromatosis, University Hospital of Modena, Modena, Italy. Electronic address: antonello.pietrangelo@unimore.it.
Journal:Gastroenterology. 2015 Oct;149(5):1240-1251.e4. doi: 10.1053/j.gastro.2015.06.045. Epub 2015 Jul 9.

3:Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.
Authors:Farrell CP, Parker CJ, Phillips JD
Institution:University of Utah School of Medicine, Hematology Division, 30North 1900 East, Salt Lake City, UT 84132, United States. Salt Lake City, UT 84132, United States. Salt Lake City, UT 84132, United States. Electronic address: john.phillips@hsc.utah.edu.
Journal:Blood Cells Mol Dis. 2015 Aug;55(2):101-3. doi: 10.1016/j.bcmd.2015.04.002. Epub 2015 May 1.

4:The detrimental effects of iron on the joint: a comparison between haemochromatosis and haemophilia.
Authors:van Vulpen LF, Roosendaal G, van Asbeck BS, Mastbergen SC, Lafeber FP, Schutgens RE
Institution:Van Creveldkliniek, University Medical Center Utrecht, Utrecht, The Netherlands Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, The Netherlands. Utrecht, The Netherlands. Utrecht, Utrecht, The Netherlands. Utrecht, Utrecht, The Netherlands.
Journal:J Clin Pathol. 2015 Aug;68(8):592-600. doi: 10.1136/jclinpath-2015-202967. Epub 2015 Apr 20.

5:Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Authors:McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD
Institution:Department of Epidemiology, University of California, Irvine, CA. Brisbane, Australia. Brisbane, Australia. Brisbane, Australia. Brisbane, Australia. of Queensland, Brisbane, Australia. California, Irvine, CA.
Journal:Hepatology. 2015 Aug;62(2):429-39. doi: 10.1002/hep.27711. Epub 2015 Mar 18.

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Medifocus Guidebook on Hereditary Hemochromatosis

Updated: January 21, 2016
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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."
S.D.R.
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."
D.J.
St. Joseph, Missouri



  
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