DEVELOPMENT AND CLINICAL VALIDATION OF A NOVEL, HIGH-THROUGHPUT, ASSAY FOR URINARY HEPCIDIN. IMPLICATIONS FOR DIAGNOSIS AND TREATMENT OF GENETIC HEMOCHROMATOSIS AND OTHER IRON OVERLOAD DISORDERS

Hereditary Hemochromatosis (HH) is a genetic disorder in which excess iron accumulates in the body. This results in multi-organ damage, including liver cirrhosis, diabetes, sexual dysfunction, and heart failure. Iron overload is also a severe complication of other genetic disorders, such as thalassemias. Some particular forms of HH, difficult to be properly diagnosed, are exceedingly rare worldwide but not in the Southern Europe. Italian researchers supported by Telethon have given substantial contributes to the discovery of these forms, for example the hemochromatosis due to mutations in the gene for hepcidin. Hepcidin is a recently discovered hormone produced by the liver. It is a key regulator of iron metabolism, i.e. by diminishing intestinal iron absorption, the major route of iron body entering. The measurement of hepcidin in easily available biological samples (urine, blood) is of paramount importance for proper clinical evaluation of iron overloaded patients. However, it is very difficult for technical reasons. Until now only one complex method has been proven to be effective. Unfortunately, this method is not available to the vast majority of patients, even those referring to highly specialized centres. This project is aimed to develop a new, simple method to measure urinary hepcidin. We would like to make it widely available to the medical community for diagnosis and treatment of iron overloaded patients, including those that cannot directly access to referral centres. Since it is realistic to expect in the next future that new hepcidin-modulating therapeutic strategies will be available, a simple and accurate method for hepcidin measurement may represent an important tool for deciding the optimal therapy in iron overloaded patients.