Τίτλος:
Hepcidin in iron overload disorders
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Hepcidin is the principal regulator of iron absorption in humans. The
pepticle inhibits cellular iron efflux by binding to the iron export
channel ferroportin and inducing its internalization and degradation.
Either hepcidin deficiency or alterations in its target, ferroportin,
would be expected to result in dysregulated iron absorption, tissue
maldistribution of iron, and iron overload. Indeed, hepcidin deficiency
has been reported in hereditary hemochromatosis and attributed to
mutations in HFE, transferrin receptor 2, hemojuvelin, and the hepcidin
gene itself. We measured urinary hepcidin in patients with other genetic
causes of iron overload. Hepcidin was found to be suppressed in patients
with thalassemia syndromes and congenital dyserythropoietic anemia type
1 and was undetectable in patients with juvenile hemochromatosis with
HAMP mutations. Of interest, urine hepcidin levels were significantly
elevated in 2 patients with hemochromatosis type 4. These findings
extend the spectrum of iron disorders with hepcidin deficiency and
underscore the critical importance of the hepcidin-ferroportin
interaction in iron homeostasis. (c) 2005 by The American Society of
Hematology.
Συγγραφείς:
Papanikolaou, G
Tzilianos, M
Christakis, JI
Bogdanos, D and
Tsimirika, K
MacFarlane, J
Goldberg, YP
Sakellaropoulos, N
and Ganz, T
Nemeth, E
Περιοδικό:
Blood advances
Εκδότης:
AMER SOC HEMATOLOGY
DOI:
10.1182/blood-2004-12-4844
