When and how should we screen for hereditary hemochromatosis?
Hemochromatosis is the clinical expression of iron overload and occurs as hereditary and secondary variants. In hereditary hemochromatosis, an inborn error in iron metabolism results in excess absorption of dietary iron, which gradually accumulates in the liver, pancreas, and heart. The most common form of hereditary hemochromatosis is related to homozygosity for the C282Y mutation in the HFE gene. Early diagnosis is essential because hereditary hemochromatosis is common, severe, and treatable. Early manifestations consist of asthenia, arthralgia, and serum transferrin saturation elevation. The C282Y mutation should be looked for to confirm the diagnosis in the patient and family members. Measurement of serum transferrin saturation followed by genetic testing in individuals with values above 45% is a reasonable screening strategy.
Chalès
Gérard
G
Rheumatology department, Hôpital Sud, 16, boulevard de Bulgarie, BP 59129, 35065 Rennes, cedex 2, France. gerard.chales@chu-rennes.fr
Guggenbuhl
Pascal
P
D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D014168:Transferrin / Q000032:analysis
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D014168:Transferrin