A patient with HFE-associated hereditary hemochromatosis may show one of 3 phenotypes.
Patient selection: HFE-associated hereditary hemochromatosis
Phenotype
End-Organ Damage
Biochemical Features
non-expressing
none
none (normal serum ferritin, normal transferrin-iron saturation, etc)
biochemical
elevated serum ferritin and/or elevated transferrin iron saturation
clinical
present
Risk factors for clinical manifestations of hemochromatosis:
(1) male gender
(2) siblings with clinical manifestations
(3) elevated serum ferritin at diagnosis
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Specialty: Gastroenterology
