Marqueurs biologiques pour le diagnostic des troubles du métabolisme du fer

Despite recent insights into iron homeostasis regulation, new markers for iron status assessment are scarce. Ferritine is still the key marker for iron deficiency diagnosis. Low ferritin concentration (< 15 μg/L) is enough for diagnosis although, if ferritin is in the normal range, iron deficiency coud not be excluded especially in inflammatory condition. Soluble transferrin receptor and erythrocytes indices, hypochromic erythrocytes percent and reticulocytes hemoglobin content, may help for diagnosis as well. Further studies are required to evaluate hepcidin in the diagnosis of iron deficiency. Screening for hemochromatosis relies on a transferrin saturation above 45 % and a ferritin > 200 μg/L for women or > 300 μg/L for men. Hereditary hemochromatosis is confirmed by genotypic testing.