You are tending to a 40-year-old male patient complaining of severe abdominal pain, lack of energy, diminished sex drive, weight loss, and generalized weakness. You note a general darkening of the skin making it look bronze in color. Suspecting an iron overload, you prescribe addition tests because you believe the patient is most likely suffering from which of the following disorders?

Question

Quizplus · Accepted Answer

The symptoms and skin discoloration suggest type 1 hemochromatosis, which is the most common form of hereditary hemochromatosis, often caused by mutations in the HFE gene. Hemochromatosis is defined as a disorder in iron metabolism that is characterized by excess iron absorption, saturation of iron-binding proteins, and deposition of hemosiderin (amorphous iron deposits) in the tissues. Primary hemochromatosis is referred to as type 1 hemochromatosis and it is caused by the inheritance of an autosomal recessive allele. The locus causing type 1 hemochromatosis has been designated the HFE1 locus and is a major histocompatibility complex (MHC) class 1 gene.

You Are Tending to a 40-Year-Old Male Patient Complaining of Severe