Hereditary hemochromatosis is an autosomal recessive iron-overload disorder associated with mutation of the HFE gene, which is located on chromosome 6; in most cases the mutation is a single-base change that results in the substitution of tyrosine for cysteine at position 282 of the HFE protein (C282Y).

1. HEMOCROMATOSIS GENÉTICA BETSY CARPIO MENAUTT http://cesmed-ucsm.blogspot.com/

2. HIERRO consumen (precursores hematopoyéticos) almacenan (hepatocitos y macrófagos tisulares) absorben (enterocitos duodenales)

4. 1000 mg

11. iron uptake by crypt cells is modulated, in relation to the iron saturation of circulating transferrin, by the interaction of TfR1 with normal HFE

20. Diagnostic Workup of Suspected Adult-Onset Hereditary Hemochromatosis. or above 35 percent in premenopausal women on at least two consecutive occasions even if the serum ferritin level is normal.

21. Diagnostic Workup

30. Bibliografía Medicine. 2008;10(19):1253-62