Abstract
This guideline has been approved by the American Association for the Study of Liver Diseases (AASLD) and represents the position of the association.
Highlights
Hereditary hemochromatosis (HH) remains the most common, identified, genetic disorder in Caucasians
There are two other regularly identified mutations, one in which aspartate is substituted for histidine at amino acid position 63 (H63D), and the other in which cysteine is substituted for serine at amino acid position 65 (S65C)
The first link between HFE protein and cellular iron metabolism resulted from the observation that the HFE protein along with b2-microglobulin forms a complex with transferrin receptor-1 (TfR1).[23]
Summary
Diagnosis and Management of Hemochromatosis: 2011 Practice Guideline by the American Association for the Study of Liver Diseases. This guideline has been approved by the American Association for the Study of Liver Diseases (AASLD) and represents the position of the association. These recommendations provide a data-supported approach to establishing guidelines. They are based on the following: (1) a formal review and analysis of the recently published world literature on the topic; (2) the American College of Physicians Manual for Assessing Health Practices and Designing Practice Guidelines[1]; (3) guideline policies including the AASLD Policy on the Development and Use of Practice Guidelines and the American Gastroenterological Association’s Policy Statement on the Use of Medical Practice Guidelines[2]; and (4) the experience of the authors in regard to hemochromatosis. Specific recommendations are based on relevant published information.[3,4]
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