Which of the following options could suggest a diagnosis consistent in a patient with elevated Serum Ferritin, Serum Iron and Percent Transferrin Saturation?
Correct Answer: Hemochromatosis
Description: Hemochromatosis is a disorder of iron metabolism associated with elevated plasma iron, > 50% transferrin saturation in men and 45% in women, and an elevated serum ferritin. Hemochromatosis occur due to mutation in the HFE gene. In this, there is dysregulation of intestinal iron absorption resulting in the deposition of excessive amounts of iron in the parenchymal cells eventually leading to tissue damage and impaired functioning of organs. Ref: Harrison's Principles of Internal Medicine, 18th Edition, Chapter 357 ; Current Medical Diagnosis and Treatment, 2012, Chapter13, Pages 16, 38
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