Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic expression of hepcidin and other iron-related genes were measured by qRT-PCR. Urinary hepcidin was measured at baseline and after an oral iron challenge (ferrous sulfate; 65 mg) by SELDI-TOF-MS. A novel homozygous TFR2 mutation was identified in the splicing donor site of intron 4 (c.614+4 A>G) causing exon 4 skipping. Hepcidin and hemojuvelin expression were markedly reduced. Urinary hepcidin was lower than normal and further decreased after iron challenge. This is the first description of iron-related gene expression profiles in a TFR2 mutated patient. The decreased hepatic and urinary expression of hepcidin and lack of acute response to iron challenge confirms the primary role of TFR2 in iron homeostasis.

Pelucchi, S., Mariani, R., Trombini, P., Coletti, S., Pozzi, M., Paolini, V., et al. (2009). Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. HAEMATOLOGICA, 94(2), 276-279.

Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.

PELUCCHI, SARA;MARIANI, RAFFAELLA;COLETTI, SABINA;POZZI, MATTEO;PAOLINI, VALENTINA;BARISANI, DONATELLA;PIPERNO, ALBERTO
2009

Abstract

Transferrin receptor-2 (TFR2) regulates hepatic hepcidin secretion and when mutated causes type-3 hemochromatosis. No functional study is available in humans. We studied a 47 year-old woman with hemochromatosis. TFR2 DNA and its hepatic transcript were directly sequenced. Hepatic expression of hepcidin and other iron-related genes were measured by qRT-PCR. Urinary hepcidin was measured at baseline and after an oral iron challenge (ferrous sulfate; 65 mg) by SELDI-TOF-MS. A novel homozygous TFR2 mutation was identified in the splicing donor site of intron 4 (c.614+4 A>G) causing exon 4 skipping. Hepcidin and hemojuvelin expression were markedly reduced. Urinary hepcidin was lower than normal and further decreased after iron challenge. This is the first description of iron-related gene expression profiles in a TFR2 mutated patient. The decreased hepatic and urinary expression of hepcidin and lack of acute response to iron challenge confirms the primary role of TFR2 in iron homeostasis.
Articolo in rivista - Articolo scientifico
Hemochromatosis, TFR2, hepcidin, gene expression
English
276
279
Pelucchi, S., Mariani, R., Trombini, P., Coletti, S., Pozzi, M., Paolini, V., et al. (2009). Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2. HAEMATOLOGICA, 94(2), 276-279.
Pelucchi, S; Mariani, R; Trombini, P; Coletti, S; Pozzi, M; Paolini, V; Barisani, D; Piperno, A
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/6046
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