Abstract
Phenotypic expression of the homozygous C282Y/C282Y mutation of the HFE gene has been classified in five stages, and appropriate management recommended for each stage. Phlebotomy is indicated for stages>or=2, that is, with elevated transferrin saturation and serum ferritin levels >300 microg/L in men and >200 microg/L in women. Maximal volume per phlebotomy is 7 mL/kg and should not exceed 550 mL. The main goal of this iron-depletion therapy is to reach and maintain serum ferritin levels<or=50 microg/L. Phlebotomies performed at home by nurses should be encouraged, under strict conditions. Because genetic counseling and family screening should follow individual diagnosis, the physician must recommend that the patient inform siblings, adult children, and parents. Screening should include simultaneous genetic testing and serum iron markers.
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