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Titolo:
Population screening in hereditary hemochromatosis
Autore:
Motulsky, AG; Beutler, E;
Indirizzi:
Univ Washington, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 iv Washington, Seattle, WA 98195 USA Scripps Clin & Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA Scripps Clin & Res Inst La Jolla CA USA 92037 Med, La Jolla, CA 92037 USA
Titolo Testata:
ANNUAL REVIEW OF PUBLIC HEALTH
, volume: 21, anno: 2000,
pagine: 65 - 79
SICI:
0163-7525(2000)21:<65:PSIHH>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIPID-LOWERING THERAPY; IRON OVERLOAD; APOLIPOPROTEIN-B; C282Y MUTATION; GENE; DISEASE; HFE; POLYMORPHISM; EXPRESSION; PREVALENCE;
Keywords:
genetic screening; DNA testing; iron storage disease; genetic discrimination; public health policy;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Social & Behavioral Sciences
Clinical Medicine
Citazioni:
49
Recensione:
Indirizzi per estratti:
Indirizzo: Motulsky, AG Univ Washington, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Seattle, WA 98195 USA
Citazione:
A.G. Motulsky e E. Beutler, "Population screening in hereditary hemochromatosis", ANN R PUB H, 21, 2000, pp. 65-79

Abstract

Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used fur discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.

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Documento generato il 06/08/20 alle ore 23:55:18