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Titolo:
What's new in hemochromatosis
Autore:
Gochee, PA; Powell, LW;
Indirizzi:
Queensland Inst Med Res, Populat & Clin Sci Div, Brisbane, Qld 4006, Australia Queensland Inst Med Res Brisbane Qld Australia 4006 , Qld 4006, Australia
Titolo Testata:
CURRENT OPINION IN HEMATOLOGY
fascicolo: 2, volume: 8, anno: 2001,
pagine: 98 - 104
SICI:
1065-6251(200103)8:2<98:WNIH>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
PORPHYRIA-CUTANEA-TARDA; C282Y HOMOZYGOUS HEMOCHROMATOSIS; CELL-SURFACE EXPRESSION; VOLUNTARY BLOOD-DONORS; IRON-BINDING-CAPACITY; HEREDITARY HEMOCHROMATOSIS; GENETIC HEMOCHROMATOSIS; TRANSFERRIN RECEPTOR; HEPATIC IRON; HFE GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
73
Recensione:
Indirizzi per estratti:
Indirizzo: Powell, LW PO Royal Melbourne Hosp, Populat & Clin sci Div, Brisbane, Qld 4029, Australia PO Royal Melbourne Hosp Brisbane Qld Australia 4029 Australia
Citazione:
P.A. Gochee e L.W. Powell, "What's new in hemochromatosis", CURR OPIN H, 8(2), 2001, pp. 98-104

Abstract

Hereditary hemochromatosis (HHC) is an inherited disorder of iron metabolism affecting approximately 1 in 200-300 individuals of Northern European descent. Over time, the continued deposition of iron in parenchymal cells of many organs can eventually lead to diabetes mellitus, cardiomyopathy, and hepatic cirrhosis, the last of which is frequently followed by hepatocellular carcinoma. Although the complications of HHC can be devastating, its clinical management is simple and effective if the disease is identified early in its progression. The recent elucidation of the HFE gene has provided insight into the pathogenesis of HHC and provided a means for the early identification of individuals in whom HHC may develop. Two mutations have been implicated in HHC: C282Y and H63D, The former occurs in a homozygous state seen in 75-100% of patients with HHC. The high correlation of HFE to HHC has caused it to be considered as a candidate gene for population-based genetictesting for diagnosis and detection of predisposition to HHC. In addition,mechanisms of iron transport and metabolism are unfolding and are providing clues to the enigma of iron homeostasis and the pathophysiology of iron overload, (C) 2001 Lippincott Williams & Wilkins, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 08:18:36