期刊
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL
卷 94, 期 2, 页码 276-279出版社
FERRATA STORTI FOUNDATION
DOI: 10.3324/haematol.13576
关键词
TFR2; hepcidin; hepatic expression; iron overload; splicing mutation
类别
资金
- Italian Ministry of University and Research [FIRB 2003, PRIN2004]
- Associazione per lo Studio dell'Emocromatosi, Monza, Italy
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 TFk2 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.
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