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Titolo:
Hereditary hemochromatosis - Impact of molecular and iron-based testing onthe diagnosis, treatment, and prevention of a common, chronic disease
Autore:
Press, RD;
Indirizzi:
Oregon Hlth Sci Univ, Dept Pathol, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 Pathol, Portland, OR 97201 USA
Titolo Testata:
ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
fascicolo: 11, volume: 123, anno: 1999,
pagine: 1053 - 1059
SICI:
0003-9985(199911)123:11<1053:HH-IOM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
HLA-H MUTATIONS; CELL-SURFACE EXPRESSION; PRIMARY-CARE PATIENTS; LONG-TERM SURVIVAL; TRANSFERRIN RECEPTOR; GENETIC HEMOCHROMATOSIS; COST-EFFECTIVENESS; HOMOZYGOUS HEMOCHROMATOSIS; C282Y MUTATION; HFE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
55
Recensione:
Indirizzi per estratti:
Indirizzo: Press, RD Oregon Hlth Sci Univ, Dept Pathol, L113,3181 SW Sam Jackson Pk Rd, Portland, OR 97201 USA Oregon Hlth Sci Univ L113,3181 SW Sam Jackson Pk Rd Portland OR USA 97201
Citazione:
R.D. Press, "Hereditary hemochromatosis - Impact of molecular and iron-based testing onthe diagnosis, treatment, and prevention of a common, chronic disease", ARCH PATH L, 123(11), 1999, pp. 1053-1059

Abstract

Objective.-To review the current state-of-the-art regarding the role of iron- and DNA-based testing on the detection, treatment, and prevention of hereditary hemochromatosis (HH), the most common single-gene disorder in white people. Sources.-Review of the medical literature, with particular emphasis on recent reports of the impact of DNA-based testing on the detection of symptomatic and presymptomatic patients with HH. Conclusions.-Hereditary hemochromatosis, a common autosomal recessive ironoverload disorder (with a population prevalence of 0.3%-0.8%), is a commoncause of preventable liver, heart, joint, and endocrine disease. Since theassociated clinical signs and symptoms are nonspecific, an accurate HH diagnosis demands both a high index of suspicion and the direct laboratory demonstration of elevated iron parameters, The substantial public health burden of HH as a common, deadly, detectable, and treatable chronic disease has led the College of American Pathologists to recommend that "systematic screening for hemochromatosis is warranted for all persons over the age of 20 years. " The recent discovery that most HH cases are the result of a single well-conserved homozygous missense mutation (C282Y) within a novel transferrin-receptor binding protein (HFE) has given rise to diagnostic clinical tests for the DNA-based detection of this pathologic mutation. This direct HFEmutation test can now be used not only to confirm the diagnosis of HH in those with symptomatic disease, but also, perhaps more importantly, to detect those with presymptomatic iron overload in whom future disease manifestations may be prevented (with phlebotomy therapy).

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Documento generato il 04/07/20 alle ore 21:08:58