[Hereditary hemochromatosis HFE: regulatory and economic aspects of diagnosis and medical management].
HFE hereditary hemochromatosis is a chronic illness (ALD n(o) 17 - Maladies métaboliques et héréditaires) which is the first genetic disease in France (60% of all genetic diseases). The list of medical acts and the services supported by the French national health insurance fund are fully codified by the French national authority for health (HAS) in order to reduce unnecessary health care spending. The search for the C282Y mutation of the HFE gene to confirm the diagnosis is supported by French national health insurance fund since 2007 (under certain conditions). Treatment by phlebotomy is well established. It should begin in hospital and is generally well tolerated. Since April 2009, the use of the patient's blood (phlebotomy - blood donations) in French blood centers provides an additional contribution to blood transfusion. However, if this genetic disease is well known to the scientific viewpoint (mechanism and toxicity of iron overload, gene…) and therapeutically (bleeding), the diagnosis is always made too late by ignorance of the symptoms.
Laboratoire de biochimie, CHU de Rennes. martine.ropert@chu-rennes.fr
Martine
M
Ropert-Bouchet
Isabelle
I
Fajardy
Henri
H
Michel
D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis / Q000191:economics / Q000235:genetics* / Q000628:therapy*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010348:Patient Care Team; D010375:Pedigree; D018962:Phlebotomy
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D007502:Iron Chelating Agents; D008565:Membrane Proteins