Purchase PDF (2544 K) | Lack of enterocyte iron accumulation in the ferroportin... Blood Cells, Molecules, and Diseases |
 itled to access the full text of this document" title="You are not entitled to access the full text of this document" width=12 height=14"> Lack of enterocyte iron accumulation in the ferroportin diseaseBlood Cells, Molecules, and Diseases, Volume 35, Issue 3, November-December 2005, Pages 315-318 Elena Corradini, Giuliana Montosi, Francesca Ferrara, Angela Caleffi, Elisa Pignatti, Samuele Barelli, Cinzia Garuti, Antonello Pietrangelo Abstract Ferroportin-associated iron overload (also known as the ferroportin disease) is a common cause of hereditary hyperferritinemia. It was originally proposed that loss-of-protein function mutations account for iron overload in the FD. This hypothesis is consistent with the phenotype reported in most patients with FD of early iron accumulation in tissues, particularly in macrophages, in spite of relatively normal-low circulatory iron. It was still unclear, however, how FPN mutations would affect iron retention in enterocytes. We studied histologically the intestine of six patients with different FPN mutations as compared to other subjects with various iron disorders. We found that regardless of the underlying FPN mutation, no iron accumulation was found in absorbing enterocytes while, intestinal villi showed marked signs of iron accumulation in the cells of lamina propria. Not surprisingly, in the liver, iron excess was found mainly in Kupffer cells. These results indicate that FPN haploinsufficiency is not limiting for iron export from enterocytes. Purchase PDF (175 K) |
| Magnetic resonance imaging to identify classic and nonc... Blood Cells, Molecules, and Diseases |
| itled to access the full text of this document" title="You are not entitled to access the full text of this document" width=12 height=14"> Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease Blood Cells, Molecules, and Diseases, Volume 37, Issue 3, November-December 2006, Pages 192-196 Antonello Pietrangelo, Elena Corradini, Francesca Ferrara, Alberto Vegetti, Gerard De Jong, Gian Luca Abbati, Pier Paolo Arcuri, Sara Martinelli, Emilio Cerofolini Abstract The ferroportin-related disorder is an increasingly recognized cause of hereditary iron overload. Based on the in vitro behavior of different ferroportin mutant subsets, it was suggested that different forms of the disorder might exist in humans. We used MRI to address this question in vivo in 22 patients from four different pedigrees carrying different ferroportin mutations: A77D, N144H, G80S and Val 162del. We found that, based on the iron status of spleen and bone macrophages, two different forms of the disease can be identified: a classic, common form, characterized by hepatocyte, splenic macrophage and bone marrow macrophage iron retention in patients carrying the A77D, G80S and Val 162del ferroportin variants; a rarer non-classic form, associated with liver iron overload but normal spleen and bone marrow iron content in patients with the N144H mutation. The two forms are likely caused by lack- or gain-of-protein function, respectively. Interestingly, in treated patients with the classic form, the spleen and the spine show appreciable iron accumulation even when serum ferritin is normal and liver iron content low. In conclusion, MRI is a useful non-invasive diagnostic tool to categorize and diagnose the disorder, monitor the status of iron depletion and gain insights on its natural history and management. Purchase PDF (245 K) |
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ite or Link Using DOI (Opens New Window)" title="How to Cite or Link Using DOI (Opens New Window)" border="0" align="absmiddle"> G80S-linked ferroportin disease: The first clinical description in a Greek family
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