Which of the following statements about Hemochromatosis is true?
Hemochromatosis is an autosomal recessive disease caused by a mutation in the HFE gene on chromosome 6. The HFE protein plays an impoant role in the process by which duodenal crypt cells sense body iron stores, leading in turn to increased iron absorption from the duodenum. A decrease in the synthesis or expression of hepcidin, a principal iron regulatory hormone, is a key pathogenic factor in all forms of hemochromatosis. About 85% of persons are homozygous for the C282Y mutation. Ref: Current Medical Diagnosis and Treatment, 2012, Chapter 16
Phlebotomy is curative
More common in Females
Shows complete penetrance
Inherited as an autosomal recessive disorder