Hemochromatosis, a disorder that is the result of excess iron accumulation, is caused by deficiencies in which of the following proteins?

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Quizplus · Accepted Answer

Hemochromatosis is most commonly caused by mutations in the HFE gene, which leads to improper regulation of iron absorption and results in excess iron accumulation in the body.  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.

Hemochromatosis, a Disorder That Is the Result of Excess Iron