Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Haemochromatosis: iron still matters
Autore:
Bassett, ML;
Indirizzi:
Canberra Hosp, Canberra Clin Sch, Gastroenterol Unit, Canberra, ACT, Australia Canberra Hosp Canberra ACT Australia erol Unit, Canberra, ACT, Australia Univ Sydney, Dept Med, Sydney, NSW 2006, Australia Univ Sydney Sydney NSWAustralia 2006 pt Med, Sydney, NSW 2006, Australia
Titolo Testata:
INTERNAL MEDICINE JOURNAL
fascicolo: 4, volume: 31, anno: 2001,
pagine: 237 - 242
SICI:
1444-0903(200105/06)31:4<237:HISM>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENETIC HEMOCHROMATOSIS; HEREDITARY HEMOCHROMATOSIS; HOMOZYGOUS HEMOCHROMATOSIS; IDIOPATHIC HEMOCHROMATOSIS; CLINICAL EXPRESSION; LIVER-DISEASES; C282Y MUTATION; HFE; ASSOCIATION; GENOTYPE;
Keywords:
C282Y; diagnosis; haemochromatosis; HFE; iron overload;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Bassett, ML Canberra Hosp, Gastroenterol Unit, POB 11, Woden, ACT 2606, Australia Canberra Hosp POB 11 Woden ACT Australia 2606 2606, Australia
Citazione:
M.L. Bassett, "Haemochromatosis: iron still matters", INTERN M J, 31(4), 2001, pp. 237-242

Abstract

Our ability to detect those predisposed to haemochromatosis is greatly enhanced by testing for HFE mutations. Ironically, this diagnostic advance hasled to some confusion regarding the criteria for diagnosis of haemochromatosis, with overreliance on genetic testing instead of investigations for iron overload. Because many people who are homozygous for the C282Y mutation,or compound heterozygous for the C282Y and H63D mutations, either do not express or only partially express the disease, it is essential to confirm a diagnosis of haemochromatosis on the basis of increased body iron stores. Liver biopsy remains the best method of confirming this and has an importantrole in the patient with either borderline iron overload or advanced disease. Persistent elevation of serum ferritin concentration in the absence of overt liver damage, inflammation or neoplasia, and estimation of mobilized body iron by repeated phlebotomy, are reasonable alternatives to liver biopsy. Although the precise definition of iron overload is debated, a diagnosis of haemochromatosis cannot be made without demonstrating increased body iron stores.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 06:23:43