Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

• DOI: 10.1007/s12072-018-9855-0
• Publication Date: 2018-03-27T13:13:41Z
• Authors: Paul Adams; Albert Altes; Pierre Brissot; Barbara Butzeck; Ioav Cabantchik; Rodolfo Cançado; Sonia Distante; Patricia Evans; Robert Evans; Tomas Ganz; Domenico Girelli; Rolf Hultcrantz; Gordon McLaren; Ben Marris; Nils Milman; Elizabeta Nemeth; Peter Nielsen; Brigitte Pineau; Alberto Piperno; Graça Porto; Dianne Prince; John Ryan; Mayka Sanchez; Paulo Santos; Dorine Swinkels; Emerência Teixeira; Ketil Toska; Annick Vanclooster; Desley White
• Keywords: Male; 0301 basic medicine; 61; Medicina; Clinical Sciences; Chronic Liver Disease and Cirrhosis; Clinical sciences; Guidelines; Hereditary Hemochromatosis, guidelines, treatment; 03 medical and health sciences; Phlebotomy; Genetics; Humans; Hemochromatosis Protein; Contributors and Hemochromatosis International Taskforce; Biomedical and Clinical Sciences; Gastroenterology & Hepatology; Liver Disease; Homozygote; Hematology; Chelation Therapy; Diet; 3. Good health; Medicine; Female; hereditary hemochromatosis, HFE, p.Cys282Tyr; Hemochromatosis; Digestive Diseases

Although guidelines are available for hereditary hemochromatosis, a high percentage of the recommendations within them are not shared between the different guidelines. Our main aim is to provide an objective, simple, brief, and practical set of recommendations about therapeutic aspects of HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype, based on the published scientific studies and guidelines, in a form that is reasonably comprehensible to patients and people without medical training. This final version was approved at the Hemochromatosis International meeting on 12th May 2017 in Los Angeles.