Vai al contenuto principale

Molecular genetics of iron metabolism

Tipologia
Progetti interni
Settore ERC
LS4_5 - Non-hormonal mechanisms of inter-organ and tissue communication

Aree / Gruppi di ricerca

Partecipanti al progetto

Descrizione del progetto

The rare forms of hereditary hemochromatosis are considered within the rare hematologic pathologies recognized by the ERB EuroBloodNet, of which AOU San Luigi di Orbassano, one of the headquarters of the Department of Clinical and Biological Sciences is a full member. For nearly 20 years, the Clinical and Molecular Hematology Unit of the Department of Clinical and Biological Sciences is at the forefront in the basic, translational and clinical research of hereditary metabolism disorders. As a result of this research program at the Clinical and Molecular Hematology Unit, the natural history and molecular bases of non-HFE related hemochromatosis were clarified. In recent years, it has been possible to identify in human individuals the first mutations of genes involved in the development of these disorders and to provide accurate genetic counseling and early diagnosis to patients with rare forms of hemochromatosis (ORPHA 79230/225123/139491). In addition, availability of SQUID equipment for non-invasive hepatic overload measurement at the SSU Microcitemie of OAU San Luigi has allowed to better characterize the clinical phenotype of patients in order to optimize the genetic study of iron overloads not related to HFE gene mutations.

Risultati e pubblicazioni

Piubelli C, Castagna A, Marchi G, Rizzi M, Busti F, Badar S, Marchetti M, De Gobbi M, Roetto A, Xumerle L, Suku E, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Identification of new BMP6 pro-peptide mutations in patients with iron overloadAm J Hematol. 2017;92:562-568.

Ferbo L, Manzini PM, Badar S, Campostrini N, Ferrarini A, Delledonne M, Francisci T, Tassi V, Valfrè A, Dall'Omo AM, D'Antico S, Girelli D, Roetto A, De Gobbi M. Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing. Blood Transfus. 2016 ;14:531-534.

Ultimo aggiornamento: 11/11/2019 15:17
Non cliccare qui!