In:
Blood, American Society of Hematology, Vol. 110, No. 11 ( 2007-11-16), p. 703-703
Abstract:
Hereditary hemochromatosis (HH) is a prevalent, potentially fatal disorder hallmarked by intestinal iron hyperabsorption, hyperferremia and hepatic iron overload. In both humans and mice, type I HH is associated with mutations in the ubiquitously expressed HFE/Hfe gene. To understand the molecular mechanism(s) underlying HH and to identify the cell type in which Hfe acts to prevent HH we generated mice with tissue-specific Hfe ablations. We demonstrate that hepatocyte-specific Hfe deficiency fully recapitulates the phenotype observed in Hfe−/− mice with severe liver iron accumulation, reduced splenic iron content, increased Tf saturation, hyperferremia and reduced hepcidin expression. These findings unambiguously and directly show that Hfe acts in hepatocytes to prevent hemochromatosis.
Type of Medium:
Online Resource
ISSN:
0006-4971
,
1528-0020
DOI:
10.1182/blood.V110.11.703.703
Language:
English
Publisher:
American Society of Hematology
Publication Date:
2007
detail.hit.zdb_id:
1468538-3
detail.hit.zdb_id:
80069-7