HFE gene mutation; HFE genotyping

Indications

• diagnosis of hemochromatosis

Contraindications

• HFE genotyping for patients who don't have iron overload or a family history of HFE-associated hereditary hemochromatosis

Clinical significance

• defects in HFE are associated with
  • hereditary hemochromatosis
  • porphyria cutanea tarda
  • variegate porphyria
  • susceptibility to diabetic nephropathy

More general terms

• gene mutation testing; gene mutation analysis

More specific terms

• HFE gene p.C282Y
• HFE gene p.G845A
• HFE gene p.H63D
• HFE gene p.S65C

Additional terms

• hemochromatosis